ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658830517
Gene: SMC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
523214
ClinVar RCV Id:
RCV000680264
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005436.1:p.Ala485del
CA658822530
NM_005445.4:c.1453_1455del