Allele Registry

Canonical Allele Identifier: PA645377390

Gene: EPB41L1 HGNC NCBI

ClinVar RCV:

RCV000454281

ClinVar Variation:

402208

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245258.1:p.Arg638Cys	CA16609541 NM_001258329.1:c.1912C>T