ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825331930
Gene: GCH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009854
ClinVar Variation:
9272
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019195.1:p.Asp134Val
CA254719
NM_001024024.2:c.401A>T