ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580246647
Gene: SMARCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1718466
ClinVar RCV Id:
RCV002304905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001374212.1:p.Ser1484Phe
CA404073974
NM_001387283.1:c.4451C>T