Canonical Allele Identifier: PA278173
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1365614
ClinVar RCV Id: RCV001929892 RCV003155434
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000051.1:p.Leu83_Leu85del
CA278172
NM_000060.4:c.247_255del