Canonical Allele Identifier: PA2826615431
Gene: ELN HGNC NCBI

Linked Data

ClinVar Variation Id: 360635
ClinVar RCV Id: RCV000276091 RCV000541772 RCV001706598
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265842.1:p.Phe75Leu
CA4292410
NM_001278913.2:c.223T>C
CA367869203
NM_001278913.2:c.225T>A
CA367869204
NM_001278913.2:c.225T>G