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
ENSP00000303500.2:p.Val240Leu
CA229724
ENST00000307000.7:c.718G>C
CA386295775
ENST00000307000.7:c.718G>T
CA2580614529
ENST00000307000.7:c.718_720delinsCTA