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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:
CA1435753323
Gene: WFS1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.6269271_6269272delinsAC , CM000666.2:g.6269271_6269272delinsAC
GRCh38
NC_000004.11:g.6270998_6270999delinsAC , CM000666.1:g.6270998_6270999delinsAC
GRCh37
NC_000004.10:g.6321899_6321900delinsAC
NCBI36
NG_011700.1:g.4422_4423delinsAC
Transcript Alleles
HGVS
Amino-acid change
XM_017008586.1:c.4+7632_4+7633delinsAC
XP_016864075.1:n.4+7632_4+7633delinsAC
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