ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA272529
Gene: SMC1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
159945
ClinVar RCV Id:
RCV000147555
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268392.1:p.Arg604His
CA272526
NM_001281463.1:c.1811G>A