Canonical Allele Identifier: PA2828449000
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1952338
ClinVar RCV Id: RCV002676902
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357681.1:p.Asp240Ala
CA2277375
NM_001370752.1:c.719A>C