Canonical Allele Identifier: PA913201489
Gene: BTD HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001268653.1:p.Gln458His
NM_001281724.2:c.1374A>C

NM_001281724.2:c.1374A>T