ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826624039
Gene: SMC1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1361761
ClinVar RCV Id:
RCV003136223
RCV001931947
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268392.1:p.Asn593Ser
CA413252924
NM_001281463.1:c.1778A>G