Canonical Allele Identifier: PA2828606545
Gene: MPDZ HGNC NCBI

Linked Data

ClinVar Variation Id: 211506
ClinVar RCV Id: RCV000192318 RCV000514767 RCV001336608
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362356.1:p.Leu347Phe
CA205061
NM_001375427.1:c.1041G>C
CA372945553
NM_001375427.1:c.1041G>T