Canonical Allele Identifier: PA2826590208
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 550861
ClinVar RCV Id: RCV000665732
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268652.2:p.Val437Leu
CA351608651
NM_001281723.3:c.1309G>C
CA351608653
NM_001281723.3:c.1309G>T