Canonical Allele Identifier: PA229293
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102485
ClinVar RCV Id: RCV000088716
ClinVar Variation Id: 102486
ClinVar RCV Id: RCV000088717

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Gly346Arg
CA229292
NM_000277.3:c.1036G>A
CA229294
NM_000277.3:c.1036G>C