Allele Registry

Canonical Allele Identifier: PA278240

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000021949

RCV000724129

ClinVar Variation:

38275

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Tyr210Cys	CA278239 NM_000060.4:c.629A>G