Canonical Allele Identifier: PA2825570007
Gene: EPB42 HGNC NCBI

Linked Data

ClinVar Variation Id: 316009
ClinVar RCV Id: RCV000756092 RCV002520957
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107606.1:p.His589Gln
CA7520229
NM_001114134.2:c.1767C>A
CA392106625
NM_001114134.2:c.1767C>G