Canonical Allele Identifier: PA1139739297
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 978373
ClinVar RCV Id: RCV001256950

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065166.2:p.Ser146Arg
CA9868840
NM_020433.5:c.438C>A
CA409094377
NM_020433.5:c.438C>G
CA409094381
NM_020433.5:c.436A>C