Canonical Allele Identifier: PA2828446115
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 2230099
ClinVar RCV Id: RCV002702643 RCV003600444
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357587.1:p.Thr334Met
CA2277414
NM_001370658.1:c.1001C>T