Canonical Allele Identifier: PA2828445911
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 92400
ClinVar RCV Id: RCV000144058 RCV000507456 RCV003905037
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357587.1:p.Arg189His
CA220329
NM_001370658.1:c.566G>A