Allele Registry

Canonical Allele Identifier: PA2828445697

Gene: BTD HGNC NCBI

ClinVar Allele:

47043

ClinVar RCV:

RCV000021900

RCV000427971

ClinVar Variation:

38482

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Leu51Pro	CA278161 NM_001370658.1:c.152T>C