Allele Registry

Canonical Allele Identifier: PA278196

Gene: BTD HGNC NCBI

ClinVar Allele:

36339

ClinVar RCV:

RCV000021920

RCV000755882

ClinVar Variation:

25001

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Arg122Gly	CA278195 NM_000060.4:c.364A>G