Allele Registry

Canonical Allele Identifier: PA278017

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000001982

RCV001815158

ClinVar Variation:

1905

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Arg79Cys	CA278016 NM_000060.4:c.235C>T