Canonical Allele Identifier: PA2580102925
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1994796
ClinVar RCV Id: RCV002791402
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000051.1:p.Pro341Leu
CA351607806
NM_000060.4:c.1022C>T