Allele Registry

Canonical Allele Identifier: PA2827196057

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000001974

RCV000185809

ClinVar Variation:

1897

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310511.1:p.Thr512Met	CA278009 NM_001323582.1:c.1535C>T