ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830434959
Gene: TH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013118
RCV002274896
ClinVar Variation:
12325
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_954987.2:p.Leu232Pro
CA341191
NM_199293.3:c.695T>C