Canonical Allele Identifier: PA2826589801
Gene: BTD HGNC NCBI
ClinVar Allele:
165807
ClinVar RCV:
RCV000144060
ClinVar Variation:
156003
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268652.2:p.Thr214Ile
CA278439
NM_001281723.3:c.641C>T