ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830024809
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
856576
ClinVar RCV Id:
RCV001062069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Cys264Tyr
CA391998391
NM_024344.1:c.791G>A