ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA109000
Gene: SMC1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
29929
ClinVar RCV Id:
RCV000022820
RCV000441375
RCV000623393
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006297.2:p.Ile784Thr
CA259690
NM_006306.4:c.2351T>C