ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA137182
Gene: JUP
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_068831.1:p.Met697Leu
NM_021991.4:c.2089A>C
NM_021991.4:c.2089A>T