Canonical Allele Identifier: PA2827010242
Gene: TSC2 HGNC NCBI
ClinVar RCV:
RCV000644178
ClinVar Variation:
535944
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Asp1575Asn
CA394311729
NM_001318829.2:c.4723G>A