ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828519580
Gene: SMARCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
952690
ClinVar RCV Id:
RCV001224847
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361386.1:p.Leu1418Pro
CA404073962
NM_001374457.1:c.4253T>C