Allele Registry

Canonical Allele Identifier: PA220328

Gene: BTD HGNC NCBI

ClinVar Allele:

36357

ClinVar RCV:

RCV000021940

RCV000790752

ClinVar Variation:

25020

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Cys186Tyr	CA220327 NM_000060.4:c.557G>A