ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413224
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411218
ClinVar RCV Id:
RCV001012341
RCV000475896
RCV001770354
RCV004001891
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Asn532Tyr
CA029180
NM_000368.5:c.1594A>T