Canonical Allele Identifier: PA645468761
Gene: CATSPER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 305434
ClinVar RCV Id: RCV000395724

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_444282.3:p.Gly399Arg
CA10631252
NM_053054.4:c.1195G>A
CA381335626
NM_053054.4:c.1195G>C