ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827534783
Gene: RIMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
357859
ClinVar RCV Id:
RCV000364281
RCV001861291
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337376.1:p.Val689Ala
CA3886474
NM_001350447.2:c.2066T>C