ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741931741
Gene: SMC1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2779633
ClinVar RCV Id:
RCV003624583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006297.2:p.Gln1177Arg
CA413242366
NM_006306.4:c.3530A>G