Allele Registry

Canonical Allele Identifier: PA278317

Gene: BTD HGNC NCBI

ClinVar Allele:

36411

ClinVar RCV:

RCV000022000

RCV000493447

ClinVar Variation:

25075

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Cys424Tyr	CA278316 NM_000060.4:c.1271G>A