Allele Registry

Canonical Allele Identifier: PA2827195943

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000032020

RCV003480039

ClinVar Variation:

38577

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310511.1:p.Gly393Ser	CA278392 NM_001323582.1:c.1177G>A