ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA246712
Gene: WFS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198190
ClinVar RCV Id:
RCV000023512
RCV000200201
RCV000515386
RCV000724125
RCV001155464
RCV001155463
RCV004537488
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005996.2:p.Arg228His
CA246711
NM_006005.3:c.683G>A