Canonical Allele Identifier: PA347569
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 217145
ClinVar RCV Id: RCV000201159 RCV000710091 RCV001814104 RCV003462345
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000061.1:p.Trp373Arg
CA347568
NM_000070.3:c.1117T>C
CA391999112
NM_000070.3:c.1117T>A