Canonical Allele Identifier: PA312372
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 2629335
ClinVar RCV Id: RCV003414156 RCV003497997
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000051.1:p.Thr492Ile
CA312371
NM_000060.4:c.1475C>T