Canonical Allele Identifier: PA916037600
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 584
ClinVar RCV Id: RCV000000614 RCV000089079 RCV002251844 RCV003984797
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Arg252Trp
CA057308
NM_001354304.2:c.[754C>T;353-507G>T]
CA251529
NM_001354304.2:c.754C>T