ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828060758
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411270
ClinVar RCV Id:
RCV000458622
RCV001016107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Asp751His
CA16612739
NM_001362177.1:c.2251G>C