Canonical Allele Identifier: PA916037556
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102783
ClinVar RCV Id: RCV000089034 RCV001854514
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Gln226His
CA229691
NM_001354304.2:c.678G>C
CA6748882
NM_001354304.2:c.678G>T