Canonical Allele Identifier: PA2825138129
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1044612
ClinVar RCV Id: RCV001348880
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Glu316Val
CA386291621
NM_000277.3:c.947A>T