ClinGen Allele Registry
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Canonical Allele Identifier:
PA645413479
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000229256
RCV000563268
RCV001169542
RCV001568881
RCV003998777
ClinVar Variation:
237715
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Asp1002Val
CA035584
NM_000368.5:c.3005A>T