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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:
CA2639316079
Gene: SCN4A
HGNC
NCBI
Linked Data
gnomAD v4:
17-63959175-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.63959179del , CM000679.2:g.63959179del
GRCh38
NC_000017.10:g.62036539del , CM000679.1:g.62036539del
GRCh37
NC_000017.9:g.59390271del
NCBI36
NG_011699.1:g.18743del
Transcript Alleles
HGVS
Amino-acid change
ENST00000435607.3:c.2019+89del
MANE Select
ENSP00000396320.1:n.2019+89del
ENST00000578147.5:c.2019+89del
ENSP00000463963.1:n.2019+89del
NM_000334.4:c.2019+89del
MANE Select
NP_000325.4:n.2019+89del
XM_005257566.3:c.2019+89del
XP_005257623.1:n.2019+89del
Search 100 bp 5'
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