ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057530485
Gene: SMARCB1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005196252
ClinVar Variation:
3723908
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003064.2:p.Cys167Tyr
CA410934604
NM_003073.5:c.500G>A