Canonical Allele Identifier: PA1139741926
Gene: PAH HGNC NCBI
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ala49Asp
CA386302329
NM_001354304.2:c.146C>A