This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: EFHC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165891.1:p.Leu494Phe
CA364458007
NM_001172420.2:c.1482G>C
CA364458010
NM_001172420.2:c.1482G>T