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
ENSP00000444521.1:p.Leu494Phe
CA364458007
ENST00000538167.2:c.1482G>C
CA364458010
ENST00000538167.2:c.1482G>T