Allele Registry

Canonical Allele Identifier: PA2828445916

Gene: BTD HGNC NCBI

ClinVar Allele:

36367

ClinVar RCV:

RCV000032022

RCV000520641

ClinVar Variation:

38579

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Asn194Ser	CA278395 NM_001370658.1:c.581A>G