Canonical Allele Identifier: PA645472466
Gene: ELN HGNC NCBI

Linked Data

ClinVar Variation Id: 423742
ClinVar RCV Id: RCV000478684 RCV002470874 RCV002526957 RCV002525947
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000492.2:p.Val513Ile
CA4293089
NM_000501.4:c.1537G>A