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: FAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454271.1:p.[Leu275_Ser278delinsSerTrpLeuLeu;Thr280_Ser282delinsProSerAla;Pro284_Gly290delinsArgSerGlnLysThr;Met292_Lys298delinsAlaProCysTrpAsnCysArg;Thr300_Asp304delinsArgGluArgSerPro]
CA2740096741
ENST00000539156.5:c.823del