Allele Registry

Canonical Allele Identifier: PA278242

Gene: BTD HGNC NCBI

ClinVar Allele:

36365

ClinVar RCV:

RCV000021950

RCV000508413

ClinVar Variation:

25028

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Arg211Cys	CA278241 NM_000060.4:c.631C>T