Canonical Allele Identifier: PA2825569964
Gene: EPB42 HGNC NCBI

Linked Data

ClinVar Variation Id: 316016
ClinVar RCV Id: RCV000356581 RCV003165851 RCV003556326
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107606.1:p.Ile389Leu
CA7520386
NM_001114134.2:c.1165A>C
CA392112209
NM_001114134.2:c.1165A>T