Allele Registry

Canonical Allele Identifier: PA916021536

Gene: MPZ HGNC NCBI

ClinVar RCV:

RCV000414872

RCV000415393

RCV001196260

ClinVar Variation:

374017

HGVS (amino-acid)	Matching Registered Transcripts
NP_001302420.1:p.Ser233Arg	CA16043363 NM_001315491.2:c.699T>G CA343344146 NM_001315491.2:c.699T>A CA343344180 NM_001315491.2:c.697A>C