Canonical Allele Identifier: PA2825138080
Gene: PAH HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Arg270_Ser273del
CA2697551513
NM_000277.3:c.809_820del