Allele Registry

Canonical Allele Identifier: PA278341

Gene: BTD HGNC NCBI

ClinVar Allele:

36423

ClinVar RCV:

RCV000022014

RCV000484254

ClinVar Variation:

25089

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Ala478Pro	CA278340 NM_000060.4:c.1432G>C