ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829368276
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
264367
ClinVar RCV Id:
RCV000247465
RCV001205869
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002221.1:p.Ala174Val
CA10587905
NM_002230.4:c.521C>T