ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413560
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411281
ClinVar RCV Id:
RCV000474862
RCV002323745
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Asp1107Asn
CA16612730
NM_000368.5:c.3319G>A