Canonical Allele Identifier: PA2826988776
Gene: ELP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 970440
ClinVar RCV Id: RCV001246011 RCV001835255 RCV004034846
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305289.1:p.Ile822Thr
CA5174531
NM_001318360.2:c.2465T>C