ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825629482
Gene: SMARCAL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196456
ClinVar RCV Id:
RCV000177274
RCV000294706
RCV001706133
RCV002294066
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120679.1:p.Arg114His
CA202386
NM_001127207.2:c.341G>A