Canonical Allele Identifier: PA2825138245
Gene: PAH HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Arg413His
CA6748707
NM_000277.3:c.1238G>A