Canonical Allele Identifier: PA2827196010
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 3135471
ClinVar RCV Id: RCV004426789
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Gln453Arg
CA351608816
NM_001323582.1:c.1358A>G