Allele Registry

Canonical Allele Identifier: PA2828446180

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV003029786

ClinVar Variation:

2113926

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Gly393Arg	CA351608374 NM_001370658.1:c.1177G>C