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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:
CA797143935
Gene: WFS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1428450653
gnomAD v3:
4-6269508-GC-G
gnomAD v4:
4-6269508-GC-G
MyVariant Identifiers:
chr4:g.6271236del (hg19)
chr4:g.6269509del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.6269510del , CM000666.2:g.6269510del
GRCh38
NC_000004.11:g.6271237del , CM000666.1:g.6271237del
GRCh37
NC_000004.10:g.6322138del
NCBI36
NG_011700.1:g.4661del
Transcript Alleles
HGVS
Amino-acid change
XM_017008586.1:c.4+7871del
XP_016864075.1:n.4+7871del
Search 100 bp 5'
Search 100 bp 3'