Canonical Allele Identifier: PA916037367
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 630
ClinVar RCV Id: RCV000000662 RCV000088839 RCV001200011
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ala47Val
CA114370
NM_001354304.2:c.140C>T