ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828415037
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318332
ClinVar RCV Id:
RCV000330059
RCV000415620
RCV002338901
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Asp1568Asn
CA10637331
NM_001370404.1:c.4702G>A