Allele Registry

Canonical Allele Identifier: PA645509998

Gene: BTD HGNC NCBI

ClinVar Allele:

432549

ClinVar RCV:

RCV000506930

RCV001315219

ClinVar Variation:

439035

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Arg538Leu	CA351962560 NM_000060.4:c.1613G>T