Canonical Allele Identifier: PA2828445837
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 25012
ClinVar RCV Id: RCV000021931 RCV000414201
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357587.1:p.Arg137Cys
CA278215
NM_001370658.1:c.409C>T