Allele Registry

Canonical Allele Identifier: PA278296

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000021984

RCV000434224

RCV000985643

ClinVar Variation:

38570

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Pro391Ser	CA278295 NM_000060.4:c.1171C>T