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: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000448059.1:p.[Lys159_Phe161delinsGlu;Asp163_Arg176del;Glu178_Gly188delinsCys]
CA2979027172
ENST00000553106.6:c.474dup