Canonical Allele Identifier: PA916048581
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 2203319
ClinVar RCV Id: RCV002651649
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357587.1:p.Tyr418Cys
CA278324
NM_001370658.1:c.1253A>G