Allele Registry

Canonical Allele Identifier: PA916048566

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000032020

RCV003480039

ClinVar Variation:

38577

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Gly393Ser	CA278392 NM_001370658.1:c.1177G>A