Canonical Allele Identifier: PA2826064114
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205404

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165891.1:p.Arg438Leu
CA314442
NM_001172420.2:c.1313G>T