ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825629912
Gene: SMARCAL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
334299
ClinVar RCV Id:
RCV000277452
RCV003972409
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120679.1:p.Ala472Thr
CA2097873
NM_001127207.2:c.1414G>A