Canonical Allele Identifier: PA2826308103
Gene: ELP2 HGNC NCBI
ClinVar RCV:
RCV003147044
ClinVar Variation:
2441215
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001229808.1:p.Gly149Cys
CA402202203
NM_001242879.3:c.445G>T