Canonical Allele Identifier: PA645377390
Gene: EPB41L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 402208
ClinVar RCV Id: RCV000454281

Amino-acid Alleles

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