ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826973943
Gene: SMARCB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
410712
ClinVar RCV Id:
RCV000461202
RCV003168834
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304875.1:p.Leu111Phe
CA10145894
NM_001317946.2:c.331C>T