Canonical Allele Identifier: PA095795
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 289372
ClinVar RCV Id: RCV000354372 RCV000727197 RCV000763349 RCV003330627 RCV003475918
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000061.1:p.Ser606Leu
CA7511567
NM_000070.3:c.1817C>T