Allele Registry

Canonical Allele Identifier: PA278442

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000144061

RCV000494587

ClinVar Variation:

156004

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Asn300His	CA278441 NM_000060.4:c.898A>C