Canonical Allele Identifier: PA2825070549
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1618566
ClinVar RCV Id: RCV002093995

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000152.1:p.Pro49Ala
CA7193676
NM_000161.3:c.145C>G