Canonical Allele Identifier: PA2828446113
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 742653
ClinVar RCV Id: RCV000918930
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357587.1:p.Glu333Lys
CA2277413
NM_001370658.1:c.997G>A