Canonical Allele Identifier: PA2827196066
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1898
ClinVar RCV Id: RCV000001975 RCV000790794 RCV003421895 RCV003242960
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Arg518Cys
CA220320
NM_001323582.1:c.1552C>T