ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247676
Gene: WFS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198836
ClinVar RCV Id:
RCV000724671
RCV003148665
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005996.2:p.Glu794Lys
CA247675
NM_006005.3:c.2380G>A