ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829137934
Gene: SMARCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
484852
ClinVar RCV Id:
RCV000569413
RCV000646862
RCV001809621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001374212.1:p.Arg351His
CA305287590
NM_001387283.1:c.1052G>A