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.Asn514Lys
CA364458191
NM_001172420.2:c.1542C>A
CA364458192
NM_001172420.2:c.1542C>G