Canonical Allele Identifier: PA916037730
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102922
ClinVar RCV Id: RCV000089189 RCV001199991
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Phe327Leu
CA229889
NM_001354304.2:c.981T>G
CA386493507
NM_001354304.2:c.981T>A
CA386493511
NM_001354304.2:c.979T>C