Canonical Allele Identifier: PA1139747030
Gene: TMEM43 HGNC NCBI

Linked Data

ClinVar Variation Id: 922552
ClinVar RCV Id: RCV001182671 RCV004033078
ClinVar Variation Id: 3075516
ClinVar RCV Id: RCV004017034
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Amino-acid Alleles

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