Allele Registry

Canonical Allele Identifier: PA220318

Gene: BTD HGNC NCBI

ClinVar Allele:

36428

ClinVar RCV:

RCV000022019

RCV000078068

ClinVar Variation:

25094

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Pro497Ser	CA220317 NM_000060.4:c.1489C>T