ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645433285
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000473877
RCV000509526
RCV001020177
RCV001584141
RCV003463869
RCV004000718
ClinVar Variation:
406099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Met1131Val
CA16614772
NM_000548.5:c.3391A>G