ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580325813
Gene: STUB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1909215
ClinVar RCV Id:
RCV002587294
RCV003167441
RCV004546737
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005852.2:p.Glu185Lys
CA7786661
NM_005861.4:c.553G>A