Canonical Allele Identifier: PA645427424
Gene: ELP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 242310
ClinVar RCV Id: RCV000229285 RCV000798294 RCV004020905
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003631.2:p.Gln983Leu
CA5174492
NM_003640.5:c.2948A>T