ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825954731
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411271
ClinVar RCV Id:
RCV000474318
RCV000571730
RCV001548481
RCV004001906
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Val172Met
CA16612590
NM_001162426.2:c.514G>A