Canonical Allele Identifier: PA2828446244
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1900
ClinVar RCV Id: RCV000001977 RCV000078064 RCV002381235
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357587.1:p.Asp424His
CA090886
NM_001370658.1:c.1270G>C