Canonical Allele Identifier: PA2825569973
Gene: EPB42 HGNC NCBI

Linked Data

ClinVar Variation Id: 255148
ClinVar RCV Id: RCV000249237 RCV000296485 RCV000899320
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107606.1:p.Arg427Cys
CA7520373
NM_001114134.2:c.1279C>T