ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA264328
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64817
ClinVar RCV Id:
RCV000055009
RCV000217275
RCV000642024
RCV000725515
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Pro362Ser
CA004402
NM_000368.5:c.1084C>T