ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825918869
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000458622
RCV001016107
ClinVar Variation:
411270
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Asp871His
CA16612739
NM_001162426.2:c.2611G>C