ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658803946
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499203
ClinVar RCV Id:
RCV000595569
RCV001247084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Phe480Tyr
CA391999851
NM_000070.3:c.1439T>A