Canonical Allele Identifier: PA2828448775
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 25005
ClinVar RCV Id: RCV000490188 RCV000021924 RCV003226165 RCV002513163
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357681.1:p.Arg128His
CA278201
NM_001370752.1:c.383G>A