ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA137196
Gene: JUP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002221.1:p.Pro736Leu
CA137193
NM_002230.4:c.2207C>T