Allele Registry

Canonical Allele Identifier: PA658827175

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000665732

ClinVar Variation:

550861

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Val457Leu	CA351608651 NM_000060.4:c.1369G>C CA351608653 NM_000060.4:c.1369G>T