ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413197
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237697
ClinVar RCV Id:
RCV000229298
RCV001010360
RCV001813773
RCV003469148
RCV003998769
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Pro419His
CA10582630
NM_000368.5:c.1256C>A