Canonical Allele Identifier: PA2830323685
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285340
ClinVar RCV Id: RCV000412799 RCV000644995 RCV003475907
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775111.1:p.Glu204Asp
CA10605085
NM_173088.2:c.612G>T
CA392001668
NM_173088.2:c.612G>C