ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA277083
Gene: SMC1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212266
ClinVar RCV Id:
RCV000193116
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268392.1:p.Glu662del
CA277080
NM_001281463.1:c.1980_1982del