ClinGen Allele Registry
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Canonical Allele Identifier:
PA915956686
Gene: GCH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001260617
RCV001851776
RCV002223756
RCV002508112
ClinVar Variation:
9281
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019195.1:p.Met221Thr
CA120278
NM_001024024.2:c.662T>C