Canonical Allele Identifier: PA645463292
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 343912
ClinVar RCV Id: RCV000264378
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000051.1:p.Glu429Lys
CA2277449
NM_000060.4:c.1285G>A