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.Glu330Asp
CA229893
ENST00000553106.6:c.990G>C
CA386493493
ENST00000553106.6:c.990G>T