ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573287293
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1497207
ClinVar RCV Id:
RCV001992272
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Ala505Thr
CA391999991
NM_024344.1:c.1513G>A