Allele Registry

Canonical Allele Identifier: PA645463325

Gene: BTD HGNC NCBI

ClinVar Allele:

406136

ClinVar RCV:

RCV000483575

RCV000675116

ClinVar Variation:

418710

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Gly465Cys	CA2277467 NM_000060.4:c.1393G>T