Canonical Allele Identifier: PA2826617613
Gene: ELN HGNC NCBI

Linked Data

ClinVar Variation Id: 360635
ClinVar RCV Id: RCV000276091 RCV000541772 RCV001706598
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265847.1:p.Phe77Leu
CA4292410
NM_001278918.2:c.229T>C
CA367869203
NM_001278918.2:c.231T>A
CA367869204
NM_001278918.2:c.231T>G