Allele Registry

Canonical Allele Identifier: PA2828448794

Gene: BTD HGNC NCBI

ClinVar Allele:

46845

ClinVar RCV:

RCV000021904

RCV000078072

ClinVar Variation:

38290

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357681.1:p.Arg137His	CA082708 NM_001370752.1:c.[410G>A;1015+255G>C] CA220323 NM_001370752.1:c.410G>A