Canonical Allele Identifier: PA645509972
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 439037
ClinVar RCV Id: RCV000507334 RCV001348854
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000051.1:p.Pro111Ala
CA351605101
NM_000060.4:c.331C>G