Allele Registry

Canonical Allele Identifier: PA916048645

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000021953

ClinVar Variation:

25031

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357681.1:p.Leu195Phe	CA278243 NM_001370752.1:c.583C>T