ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827014004
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
203155
ClinVar RCV:
RCV000190007
RCV001016513
RCV001086210
RCV003996889
ClinVar Variation:
207735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Asn719Ser
CA041783
NM_001318831.2:c.2156A>G