Canonical Allele Identifier: PA2825332070
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1618566
ClinVar RCV Id: RCV002093995
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019241.1:p.Pro49Ala
CA7193676
NM_001024070.2:c.145C>G