ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105545
Gene: WFS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
130748
ClinVar RCV Id:
RCV000118865
RCV000403034
RCV000336052
RCV000445373
RCV000987413
RCV000487646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139325.1:p.Arg818Cys
CA289140
NM_001145853.1:c.2452C>T