Allele Registry

Canonical Allele Identifier: PA2828445822

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000021926

ClinVar Variation:

25007

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Phe129Leu	CA278206 NM_001370658.1:c.385T>C CA351605821 NM_001370658.1:c.387C>G CA351605827 NM_001370658.1:c.387C>A