ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825675913
Gene: SMARCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
639353
ClinVar RCV Id:
RCV000792126
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001122316.1:p.Ser1417Asn
CA404073223
NM_001128844.1:c.4250G>A