Canonical Allele Identifier: PA1139687545
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 885874
ClinVar RCV Id: RCV001117729 RCV003145350
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000061.1:p.Asp686Glu
CA7511702
NM_000070.3:c.2058C>G
CA392001470
NM_000070.3:c.2058C>A