Canonical Allele Identifier: PA645373669
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_000110.2:p.His619Gln
CA7520229
NM_000119.3:c.1857C>A
CA392106625
NM_000119.3:c.1857C>G