Canonical Allele Identifier: PA2826686237
Gene: ELP3 HGNC NCBI
ClinVar RCV:
RCV004125976
ClinVar Variation:
2272259
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001271154.1:p.Val243Ala
CA4694327
NM_001284225.2:c.728T>C