Canonical Allele Identifier: PA916037512
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102735
ClinVar RCV Id: RCV000088984 RCV000671079
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Trp187Arg
CA229622
NM_001354304.2:c.559T>C
CA386296857
NM_001354304.2:c.559T>A