Canonical Allele Identifier: PA2825138138
Gene: PAH HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Leu321Ile
CA386291549
NM_000277.3:c.961C>A