Canonical Allele Identifier: PA916071021
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 432845
ClinVar RCV Id: RCV000497753 RCV002438209 RCV001865571 RCV002489222
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_787109.2:p.Ser100Leu
CA315352144
NM_175913.4:c.299C>T