Canonical Allele Identifier: PA2827195967
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 422496
ClinVar RCV Id: RCV000483848 RCV000675109
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Glu416Lys
CA2277452
NM_001323582.1:c.1246G>A