ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580534792
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2262094
ClinVar RCV Id:
RCV002808102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Tyr249His
CA391998289
NM_173087.2:c.745T>C