Canonical Allele Identifier: PA100885
Gene: EPB42 HGNC NCBI
ClinVar RCV:
RCV000014140
ClinVar Variation:
13235
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107606.1:p.Arg280Gln
CA341255
NM_001114134.2:c.839G>A