Canonical Allele Identifier: PA2827195996
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 92398
ClinVar RCV Id: RCV000078066 RCV002514373 RCV002514372
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Val437Ala
CA220315
NM_001323582.1:c.1310T>C