Canonical Allele Identifier: PA2573213235
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1523334
ClinVar RCV Id: RCV002038794
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357587.1:p.His430Pro
CA2277459
NM_001370658.1:c.1289A>C