Allele Registry

Canonical Allele Identifier: PA2827195769

Gene: BTD HGNC NCBI

ClinVar Allele:

36367

ClinVar RCV:

RCV000032022

RCV000520641

ClinVar Variation:

38579

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310511.1:p.Asn194Ser	CA278395 NM_001323582.1:c.581A>G