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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA919876414
Gene: SCN4A
HGNC
NCBI
Linked Data
dbSNP Id:
rs1212329560
gnomAD v4:
17-63972534-GCAGA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.63972543_63972546del , CM000679.2:g.63972543_63972546del
GRCh38
NC_000017.10:g.62049903_62049906del , CM000679.1:g.62049903_62049906del
GRCh37
NC_000017.9:g.59403635_59403638del
NCBI36
NG_011699.1:g.5381_5384del
Transcript Alleles
HGVS
Amino-acid change
ENST00000435607.3:c.273+31_273+34del
MANE Select
ENSP00000396320.1:n.273+31_273+34del
ENST00000578147.5:c.273+31_273+34del
ENSP00000463963.1:n.273+31_273+34del
NM_000334.4:c.273+31_273+34del
MANE Select
NP_000325.4:n.273+31_273+34del
XM_005257566.3:c.273+31_273+34del
XP_005257623.1:n.273+31_273+34del
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