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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:
CA2652478692
Gene: SNTA1
HGNC
NCBI
Linked Data
gnomAD v4:
20-33443795-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.33443796del , CM000682.2:g.33443796del
GRCh38
NC_000020.10:g.32031602del , CM000682.1:g.32031602del
GRCh37
NC_000020.9:g.31495263del
NCBI36
NG_011622.1:g.5097del , LRG_332:g.5097del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000217381.2:c.-176del
ENSP00000217381.2:n.-176del
NM_003098.2:c.-176del , LRG_332t1:c.-176del
NP_003089.1:n.-176del
XM_005260517.1:c.-176del
XP_005260574.1:n.-176del
XM_011529007.1:c.-176del
XP_011527309.1:n.-176del
XM_011529008.1:c.-176del
XP_011527310.1:n.-176del
XR_936612.1:n.58del
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