Canonical Allele Identifier: PA645452581
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282873
ClinVar RCV Id: RCV000342508 RCV000813198 RCV003475898
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000061.1:p.Asp419Glu
CA7511304
NM_000070.3:c.1257T>G
CA391999449
NM_000070.3:c.1257T>A