ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825920473
Gene: WFS1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000445375
RCV000585352
RCV002494843
RCV004021170
RCV004535338
ClinVar Variation:
285046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139325.1:p.Arg708Cys
CA2839605
NM_001145853.1:c.2122C>T