Allele Registry

Canonical Allele Identifier: PA1139747030

Gene: TMEM43 HGNC NCBI

ClinVar Allele:

909175

3233082

ClinVar RCV:

RCV001182671

RCV004017034

RCV004033078

ClinVar Variation:

922552

3075516

HGVS (amino-acid)	Matching Registered Transcripts
NP_077310.1:p.Leu384Ile	CA351536627 NM_024334.3:c.1150C>A CA1139657905 NM_024334.3:c.1149_1150delinsTA