Allele Registry

Canonical Allele Identifier: PA2827195942

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV003029786

ClinVar Variation:

2113926

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310511.1:p.Gly393Arg	CA351608374 NM_001323582.1:c.1177G>C