Allele Registry

Canonical Allele Identifier: PA2828445687

Gene: BTD HGNC NCBI

ClinVar Allele:

46846

ClinVar RCV:

RCV000021895

ClinVar Variation:

38487

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Val42Met	CA278152 NM_001370658.1:c.124G>A