ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829411239
Gene: SMARCB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1784737
ClinVar RCV Id:
RCV002419766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003064.2:p.Ala359Thr
CA410913578
NM_003073.5:c.1075G>A