Canonical Allele Identifier: PA645427380
Gene: ELP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 289151
ClinVar RCV Id: RCV000306378 RCV002487264
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003631.2:p.Arg730Gln
CA5174748
NM_003640.5:c.2189G>A