Canonical Allele Identifier: PA916037399
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102632
ClinVar RCV Id: RCV000088875 RCV000411181
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ser70del
CA229490
NM_001354304.2:c.208_210del