Allele Registry

Canonical Allele Identifier: PA278244

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000021953

ClinVar Variation:

25031

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Leu215Phe	CA278243 NM_000060.4:c.643C>T