ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826830451
Gene: STUB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2645847
ClinVar RCV Id:
RCV003395132
RCV003994550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280126.1:p.Asp118Asn
CA7786669
NM_001293197.2:c.352G>A