ClinGen Allele Registry
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Canonical Allele Identifier:
PA916023629
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
400793
ClinVar RCV:
RCV000466443
RCV000570630
RCV000765265
RCV003325482
ClinVar Variation:
406019
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ser603Gly
CA16614713
NM_001318832.2:c.1807A>G