Allele Registry

Canonical Allele Identifier: PA2827196002

Gene: BTD HGNC NCBI

ClinVar Allele:

406136

ClinVar RCV:

RCV000483575

RCV000675116

ClinVar Variation:

418710

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310511.1:p.Gly445Cys	CA2277467 NM_001323582.1:c.1333G>T