Canonical Allele Identifier: PA2826308134
Gene: ELP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 374912
ClinVar RCV Id: RCV000415524
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001229808.1:p.Arg392Leu
CA16043971
NM_001242879.3:c.1175G>T