ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825573624
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
203122
ClinVar RCV:
RCV000189986
RCV001083566
RCV002256101
RCV003996885
ClinVar Variation:
207720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Ser554Leu
CA032083
NM_001114382.3:c.1661C>T