ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573258163
Gene: SMARCAL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1430843
ClinVar RCV Id:
RCV001948447
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054859.2:p.Gln84Arg
CA350496883
NM_014140.4:c.251A>G