Canonical Allele Identifier: PA2580102950
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1715258
ClinVar RCV Id: RCV002301094
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000051.1:p.Gln376His
CA351608134
NM_000060.4:c.1128G>C
CA351608135
NM_000060.4:c.1128G>T