Allele Registry

Canonical Allele Identifier: PA312376

Gene: BTD HGNC NCBI

ClinVar Allele:

200042

ClinVar RCV:

RCV000409281

RCV000623390

ClinVar Variation:

203642

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Arg538Ser	CA312375 NM_000060.4:c.1612C>A