ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825287178
Gene: SMARCB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
340912
ClinVar RCV Id:
RCV000299341
RCV000337956
RCV000559614
RCV001024873
RCV001789772
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007469.1:p.Ala194Thr
CA10145992
NM_001007468.3:c.580G>A