Canonical Allele Identifier: PA2825332155
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 646153
ClinVar RCV Id: RCV000800382

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019241.1:p.Lys107Asn
CA389793455
NM_001024070.2:c.321G>T
CA389793457
NM_001024070.2:c.321G>C