Allele Registry

Canonical Allele Identifier: PA2828445805

Gene: BTD HGNC NCBI

ClinVar Allele:

36342

ClinVar RCV:

RCV000021923

RCV000438885

RCV001266904

RCV003904859

ClinVar Variation:

25004

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Pro122Thr	CA278199 NM_001370658.1:c.364C>A