Allele Registry

Canonical Allele Identifier: PA278393

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000032020

RCV003480039

ClinVar Variation:

38577

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Gly413Ser	CA278392 NM_000060.4:c.1237G>A