ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825017923
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1180801
ClinVar RCV Id:
RCV001814530
RCV003339671
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Ser265Pro
CA391998397
NM_000070.3:c.793T>C