Allele Registry

Canonical Allele Identifier: PA2828445917

Gene: BTD HGNC NCBI

ClinVar Allele:

36368

ClinVar RCV:

RCV000021953

ClinVar Variation:

25031

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Leu195Phe	CA278243 NM_001370658.1:c.583C>T