Canonical Allele Identifier: PA2826988598
Gene: ELP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 990648
ClinVar RCV Id: RCV001278710
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305289.1:p.Leu602Phe
CA374423175
NM_001318360.2:c.1806A>T
CA374423177
NM_001318360.2:c.1806A>C