Canonical Allele Identifier: PA2827196061
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 439034
ClinVar RCV Id: RCV000505981 RCV001309054
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Leu515Phe
CA351962544
NM_001323582.1:c.1543C>T