ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499263254
Gene: SMARCE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1011963
ClinVar RCV Id:
RCV001309842
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003070.3:p.Ser389Leu
CA8545052
NM_003079.5:c.1166C>T