Canonical Allele Identifier: PA2825569958
Gene: EPB42 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107606.1:p.Gln347His
CA7520419
NM_001114134.2:c.1041G>T
CA392114247
NM_001114134.2:c.1041G>C