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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:
CA549420832
Gene: WFS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1208924631
gnomAD v2:
4-6270953-G-GC
gnomAD v3:
4-6269226-G-GC
gnomAD v4:
4-6269226-G-GC
MyVariant Identifiers:
chr4:g.6270953_6270954insC (hg19)
chr4:g.6269226_6269227insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.6269229dup , CM000666.2:g.6269229dup
GRCh38
NC_000004.11:g.6270956dup , CM000666.1:g.6270956dup
GRCh37
NC_000004.10:g.6321857dup
NCBI36
NG_011700.1:g.4380dup
Transcript Alleles
HGVS
Amino-acid change
XM_017008586.1:c.4+7590dup
XP_016864075.1:n.4+7590dup
Search 100 bp 5'
Search 100 bp 3'