Allele Registry

Canonical Allele Identifier: PA278273

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV001310478

RCV003323364

RCV003497832

ClinVar Variation:

25048

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Val296Gly	CA278272 NM_000060.4:c.887T>G