Allele Registry

Canonical Allele Identifier: PA278176

Gene: BTD HGNC NCBI

ClinVar Allele:

36329

ClinVar RCV:

RCV000021909

ClinVar Variation:

24991

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Leu83Ser	CA278175 NM_000060.4:c.248T>C