ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825920220
Gene: WFS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2203524
ClinVar RCV Id:
RCV002664337
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139325.1:p.Leu557Phe
CA2839436
NM_001145853.1:c.1669C>T