Canonical Allele Identifier: PA229359
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102535
ClinVar RCV Id: RCV000088768 RCV001200006
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Thr378Ser
CA229358
NM_000277.3:c.1132A>T
CA386493244
NM_000277.3:c.1133C>G