ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580325807
Gene: STUB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1723795
ClinVar RCV Id:
RCV002306356
RCV003987995
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005852.2:p.Glu179Lys
CA394112831
NM_005861.4:c.535G>A