ClinGen Allele Registry
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Canonical Allele Identifier:
PA231653
Gene: WFS1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000118863
RCV000825497
RCV001157249
RCV001157250
RCV002509227
ClinVar Variation:
130747
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005996.2:p.Ala342Thr
CA231652
NM_006005.3:c.1024G>A