Allele Registry

Canonical Allele Identifier: PA2830371030

Gene: EPB41L1 HGNC NCBI

ClinVar RCV:

RCV000454281

ClinVar Variation:

402208

HGVS (amino-acid)	Matching Registered Transcripts
NP_818932.1:p.Arg564Cys	CA16609541 NM_177996.2:c.1690C>T