Allele Registry

Canonical Allele Identifier: PA2827195848

Gene: BTD HGNC NCBI

ClinVar Allele:

432546

ClinVar RCV:

RCV000508475

RCV000715008

ClinVar Variation:

439039

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310511.1:p.Ala279Pro	CA351607446 NM_001323582.1:c.835G>C