ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023545
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_001305761.1:p.Asn536Ser
CA015117
NM_001318832.2:c.1607A>G