ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827007986
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000034649
RCV000054857
RCV000163390
RCV000176271
RCV000989426
ClinVar Variation:
41732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Leu777Met
CA017492
NM_001318829.2:c.2329C>A