Allele Registry

Canonical Allele Identifier: PA2827196033

Gene: BTD HGNC NCBI

ClinVar Allele:

36428

ClinVar RCV:

RCV000022019

RCV000078068

ClinVar Variation:

25094

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310511.1:p.Pro477Ser	CA220317 NM_001323582.1:c.1429C>T