ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413442
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411235
ClinVar RCV Id:
RCV000475479
RCV000829005
RCV001016277
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Asn891Ser
CA16612565
NM_000368.5:c.2672A>G