Canonical Allele Identifier: PA2826467585
Gene: EPB41L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 402208
ClinVar RCV Id: RCV000454281
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245260.1:p.Arg564Cys
CA16609541
NM_001258331.2:c.1690C>T