ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825331977
Gene: GCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1333858
ClinVar RCV Id:
RCV001809073
RCV001869592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019195.1:p.Val191Ile
CA7193535
NM_001024024.2:c.571G>A