ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825629473
Gene: SMARCAL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1968981
ClinVar RCV Id:
RCV002716917
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120679.1:p.Cys108Arg
CA350497047
NM_001127207.2:c.322T>C