ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742021129
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2662218
ClinVar RCV Id:
RCV003443713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775111.1:p.Leu59Val
CA392000438
NM_173088.2:c.175C>G