ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107787
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49681
ClinVar RCV Id:
RCV000055336
RCV000042943
RCV000228102
RCV000248978
RCV000566826
RCV001719785
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Asn525Ser
CA015117
NM_000548.5:c.1574A>G