Allele Registry

Canonical Allele Identifier: PA278207

Gene: BTD HGNC NCBI

ClinVar Allele:

36345

ClinVar RCV:

RCV000021926

ClinVar Variation:

25007

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Phe149Leu	CA278206 NM_000060.4:c.445T>C CA351605821 NM_000060.4:c.447C>G CA351605827 NM_000060.4:c.447C>A