Canonical Allele Identifier: PA2826064152
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 571113
ClinVar RCV Id: RCV003768059

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165891.1:p.Arg517Pro
CA364458208
NM_001172420.2:c.1550G>C