Canonical Allele Identifier: PA275936
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 208179
ClinVar RCV Id: RCV000190375
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Ala342Glu
CA275935
NM_000277.3:c.1025C>A