Canonical Allele Identifier: PA645432062
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 256621
ClinVar RCV Id: RCV000245013 RCV003626612
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.His597Gln
CA10587224
NM_000548.5:c.1791C>G
CA394272928
NM_000548.5:c.1791C>A