Allele Registry

Canonical Allele Identifier: PA2826591890

Gene: BTD HGNC NCBI

ClinVar Allele:

432546

ClinVar RCV:

RCV000508475

RCV000715008

ClinVar Variation:

439039

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268654.1:p.Ala279Pro	CA351607446 NM_001281725.2:c.835G>C