ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573291889
Gene: RAI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1623449
ClinVar RCV Id:
RCV002104474
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_109590.3:p.Asp248Asn
CA8418177
NM_030665.4:c.742G>A