Allele Registry

Canonical Allele Identifier: PA2573206240

Gene: PAH HGNC NCBI

ClinVar Allele:

1467979

ClinVar RCV:

RCV001972839

ClinVar Variation:

1458264

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Gly312Val	CA16020902 NM_001354304.2:c.935G>T