Canonical Allele Identifier: PA229472
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102618
ClinVar Variation Id: 120269
ClinVar RCV Id: RCV000106350

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Asn61Lys
CA229471
NM_000277.3:c.183C>G
CA267644
NM_000277.3:c.183C>A