ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828059928
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411218
ClinVar RCV Id:
RCV001012341
RCV000475896
RCV001770354
RCV004001891
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Asn411Tyr
CA029180
NM_001362177.1:c.1231A>T