Allele Registry

Canonical Allele Identifier: PA2828448784

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000144057

RCV000985647

ClinVar Variation:

156001

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357681.1:p.Thr132Arg	CA278435 NM_001370752.1:c.395C>G