ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA325021
Gene: WFS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000445445
RCV001542532
RCV001857736
RCV002500616
ClinVar Variation:
215396
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005996.2:p.Arg732Cys
CA325020
NM_006005.3:c.2194C>T