Canonical Allele Identifier: PA2826590092
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 444597
ClinVar RCV Id: RCV000513201 RCV002496976
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268652.2:p.Val388Ala
CA351608347
NM_001281723.3:c.1163T>C