ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099398
Gene: TPMT
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.5997621685
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013562
RCV000396233
ClinVar Variation:
12725
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000358.1:p.Tyr240Cys
CA122646
NM_000367.3:c.719A>G
CA357862
NM_000367.3:c.[719A>G;460G>A]