Canonical Allele Identifier: PA2825028185
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 2096464
ClinVar RCV Id: RCV003028222
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000051.1:p.Val138Phe
CA351605618
NM_000060.4:c.412G>T
CA2580068515
NM_000060.4:c.411_412delinsTT