ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA277084
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_006297.2:p.Glu684del
CA277080
NM_006306.4:c.2046_2048del