Allele Registry

Canonical Allele Identifier: PA916048677

Gene: BTD HGNC NCBI

ClinVar Allele:

368264

ClinVar RCV:

RCV000428786

RCV000675056

ClinVar Variation:

379232

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357681.1:p.Ala269Val	CA16604827 NM_001370752.1:c.806C>T