ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658805094
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535895
ClinVar RCV Id:
RCV000644117
RCV001022882
RCV001766382
RCV003153784
RCV004003996
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ala1560Thr
CA052272
NM_000548.5:c.4678G>A