ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826974301
Gene: SMARCB1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000194966
RCV000515012
ClinVar Variation:
212263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304875.1:p.Lys372Glu
CA209485
NM_001317946.2:c.1114A>G