Canonical Allele Identifier: PA2827195969
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 558593
ClinVar RCV Id: RCV000674889 RCV001844220
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Leu417Val
CA351608522
NM_001323582.1:c.1249C>G