Allele Registry

Canonical Allele Identifier: PA278371

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000022033

RCV000278976

ClinVar Variation:

25107

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Asn349Thr	CA278370 NM_000060.4:c.1046A>C