ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA207256
Gene: SMC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212271
ClinVar RCV Id:
RCV000193639
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005436.1:p.Ala478dup
CA207254
NM_005445.4:c.1433_1435dup