ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573250330
Gene: SMC1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1678779
ClinVar RCV Id:
RCV002226093
RCV003089206
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006297.2:p.Arg635His
CA413252690
NM_006306.4:c.1904G>A