ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828518831
Gene: SMARCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2501584
ClinVar RCV Id:
RCV003227379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361386.1:p.Glu985Lys
CA404057661
NM_001374457.1:c.2953G>A