ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825686396
Gene: SMARCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2452850
ClinVar RCV Id:
RCV003177624
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001122319.1:p.Ser1376Lys
CA2580096248
NM_001128847.1:c.4125_4127delinsGAA