Canonical Allele Identifier: PA2830321729
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 17617
ClinVar RCV Id: RCV000019183 RCV000417420 RCV003473107
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775110.1:p.Pro271Leu
CA341474
NM_173087.2:c.812C>T