Canonical Allele Identifier: PA916037453
Gene: PAH HGNC NCBI
ClinVar Allele:
108418
ClinVar RCV:
RCV000088930
ClinVar Variation:
102682
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Asp151His
CA229553
NM_001354304.2:c.451G>C