Canonical Allele Identifier: PA2825138231
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1693228
ClinVar RCV Id: RCV002260487
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Lys398Asn
CA16020959
NM_000277.3:c.1194A>C
CA386493132
NM_000277.3:c.1194A>T