ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA356604
Gene: SMC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217800
ClinVar RCV Id:
RCV000201849
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005436.1:p.Thr235del
CA279570
NM_005445.4:c.703_705del