ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825151726
Gene: TH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013123
ClinVar Variation:
12330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000351.2:p.Thr283Met
CA278133
NM_000360.3:c.848C>T