ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253198
Gene: WFS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4520
ClinVar RCV Id:
RCV000004778
RCV000522349
RCV000599627
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005996.2:p.Ala716Thr
CA253197
NM_006005.3:c.2146G>A