ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA191943
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185435
ClinVar RCV Id:
RCV000164860
RCV000983928
RCV003995371
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Met771Thr
CA006280
NM_000368.5:c.2312T>C