Allele Registry

Canonical Allele Identifier: PA278353

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000022022

ClinVar Variation:

25097

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Gln511Glu	CA278352 NM_000060.4:c.1531C>G