Allele Registry

Canonical Allele Identifier: PA2827195921

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000021984

RCV000434224

RCV000985643

ClinVar Variation:

38570

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310511.1:p.Pro371Ser	CA278295 NM_001323582.1:c.1111C>T