Canonical Allele Identifier: PA2825138050
Gene: PAH HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Thr238Ile
CA386295852
NM_000277.3:c.713C>T