Canonical Allele Identifier: PA229338
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 597
ClinVar RCV Id: RCV000000628 RCV000088752
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Leu365del
CA229337
NM_000277.3:c.1092_1094del