ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA295575
Gene: WFS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166592
ClinVar RCV Id:
RCV000152679
RCV000767005
RCV002483323
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005996.2:p.Ala519Val
CA295574
NM_006005.3:c.1556C>T