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
ENSP00000489700.1:p.Lys514Asn
CA364458031
ENST00000637263.1:c.1542A>C
CA364458034
ENST00000637263.1:c.1542A>T