Allele Registry

Canonical Allele Identifier: PA2828445932

Gene: BTD HGNC NCBI

ClinVar Allele:

36372

ClinVar RCV:

RCV000185805

RCV003473119

ClinVar Variation:

25035

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Asp208Tyr	CA278249 NM_001370658.1:c.622G>T