Canonical Allele Identifier: PA229739
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102820
ClinVar RCV Id: RCV000089075 RCV002259594
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Leu248Arg
CA229738
NM_000277.3:c.743T>G