Canonical Allele Identifier: PA2573206235
Gene: PAH HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ala309Ser
CA386291720
NM_001354304.2:c.925G>T