Allele Registry

Canonical Allele Identifier: PA2828445910

Gene: BTD HGNC NCBI

ClinVar Allele:

452116

ClinVar RCV:

RCV000537387

RCV001591206

RCV001778993

RCV002527692

ClinVar Variation:

458809

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Arg189Cys	CA2277351 NM_001370658.1:c.565C>T