Canonical Allele Identifier: PA658818864
Gene: EPS8 HGNC NCBI

Linked Data

ClinVar Variation Id: 499499
ClinVar RCV Id: RCV000596030 RCV001697419
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004438.3:p.Asp761Glu
CA6467302
NM_004447.6:c.2283T>G
CA384022698
NM_004447.6:c.2283T>A