Allele Registry

Canonical Allele Identifier: PA2826591613

Gene: BTD HGNC NCBI

ClinVar Allele:

36350

ClinVar RCV:

RCV000021931

RCV000414201

ClinVar Variation:

25012

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268654.1:p.Arg137Cys	CA278215 NM_001281725.2:c.409C>T