Canonical Allele Identifier: PA2825332071
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2925684
ClinVar RCV Id: RCV003783778

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019241.1:p.Pro49Ser
CA7193675
NM_001024070.2:c.145C>T