ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826624033
Gene: SMC1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2296806
ClinVar RCV Id:
RCV002877796
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268392.1:p.Gly568Glu
CA413253224
NM_001281463.1:c.1703G>A