Canonical Allele Identifier: PA2827195922
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 343910
ClinVar RCV Id: RCV000299326
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Pro371Leu
CA2277434
NM_001323582.1:c.1112C>T