Allele Registry

Canonical Allele Identifier: PA278013

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000001978

RCV000445043

ClinVar Variation:

1901

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Asp252Gly	CA278012 NM_000060.4:c.755A>G