ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319343
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207654
ClinVar RCV Id:
RCV000189880
RCV000475609
RCV001009700
RCV003996860
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Lys34Thr
CA027975
NM_000548.5:c.101A>C