ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829368343
Gene: JUP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002221.1:p.His215Tyr
CA8565426
NM_002230.4:c.643C>T