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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:
CA1435753345
Gene: WFS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1729727092
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.6269322dup , CM000666.2:g.6269322dup
GRCh38
NC_000004.11:g.6271049dup , CM000666.1:g.6271049dup
GRCh37
NC_000004.10:g.6321950dup
NCBI36
NG_011700.1:g.4473dup
Transcript Alleles
HGVS
Amino-acid change
XM_017008586.1:c.4+7683dup
XP_016864075.1:n.4+7683dup
Search 100 bp 5'
Search 100 bp 3'