Allele Registry

Canonical Allele Identifier: PA645509977

Gene: BTD HGNC NCBI

ClinVar Allele:

432546

ClinVar RCV:

RCV000508475

RCV000715008

ClinVar Variation:

439039

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Ala299Pro	CA351607446 NM_000060.4:c.895G>C