Allele Registry

Canonical Allele Identifier: PA2826590028

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV002301094

ClinVar Variation:

1715258

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268652.2:p.Gln356His	CA351608134 NM_001281723.3:c.1068G>C CA351608135 NM_001281723.3:c.1068G>T