ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499277751
Gene: SMARCAL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1033661
ClinVar RCV Id:
RCV001336147
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054859.2:p.Arg817His
CA350504712
NM_014140.4:c.2450G>A