Canonical Allele Identifier: PA916037838
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 593
ClinVar RCV Id: RCV000000624 RCV000078508 RCV000150074 RCV002287315 RCV003398401
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Tyr414Cys
CA114362
NM_001354304.2:c.1241A>G