Canonical Allele Identifier: PA2827195880
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_001310511.1:p.Pro321Leu
CA351607806
NM_001323582.1:c.962C>T