ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658663692
Gene: SMC1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
463885
ClinVar RCV Id:
RCV000541696
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006297.2:p.Glu1198Gln
CA413241898
NM_006306.4:c.3592G>C