ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830435289
Gene: TH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013121
ClinVar Variation:
12328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_954987.2:p.Arg333His
CA278131
NM_199293.3:c.998G>A