Canonical Allele Identifier: PA2825028199
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1049760
ClinVar RCV Id: RCV001356279 RCV002476631
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000051.1:p.Pro146Arg
CA2277308
NM_000060.4:c.437C>G