Canonical Allele Identifier: PA2742001915
Gene: CATSPER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2612850
ClinVar RCV Id: RCV004356245
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_444282.3:p.Ser344Phe
CA6114805
NM_053054.4:c.1031C>T