Allele Registry

Canonical Allele Identifier: PA2827195766

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000021949

RCV000724129

ClinVar Variation:

38275

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310511.1:p.Tyr190Cys	CA278239 NM_001323582.1:c.569A>G