Canonical Allele Identifier: PA916037784
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102517
ClinVar RCV Id: RCV000088750 RCV000668925
ClinVar Variation Id: 554266
ClinVar RCV Id: RCV000669869 RCV001526923
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Lys363Asn
CA229334
NM_001354304.2:c.1089G>T
CA386493324
NM_001354304.2:c.1089G>C