Canonical Allele Identifier: PA2827346190
Gene: ELP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317678.1:p.Phe230Leu
CA5174920
NM_001330749.2:c.688T>C
CA374425928
NM_001330749.2:c.690T>G
CA374425929
NM_001330749.2:c.690T>A