Allele Registry

Canonical Allele Identifier: PA2826591727

Gene: BTD HGNC NCBI

ClinVar Allele:

36365

ClinVar RCV:

RCV000021950

RCV000508413

ClinVar Variation:

25028

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268654.1:p.Arg191Cys	CA278241 NM_001281725.2:c.571C>T