Canonical Allele Identifier: PA916037368
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 608
ClinVar RCV Id: RCV000000639 RCV000078511 RCV002512612 RCV003421890
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Leu48Ser
CA251539
NM_001354304.2:c.143T>C