Canonical Allele Identifier: PA658818860
Gene: EPS8 HGNC NCBI

Linked Data

ClinVar Variation Id: 517643
ClinVar RCV Id: RCV000605241 RCV000763826 RCV002531683 RCV002509475
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004438.3:p.Thr726Ile
CA6467341
NM_004447.6:c.2177C>T