Canonical Allele Identifier: PA2826591833
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 2197088
ClinVar RCV Id: RCV002624678 RCV002624677
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268654.1:p.Val243Leu
CA2277377
NM_001281725.2:c.727G>T
CA351607223
NM_001281725.2:c.727G>C