Canonical Allele Identifier: PA2827196002
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 418710
ClinVar RCV Id: RCV000483575 RCV000675116
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Gly445Cys
CA2277467
NM_001323582.1:c.1333G>T