Canonical Allele Identifier: PA645463173
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 343910
ClinVar RCV Id: RCV000299326
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000051.1:p.Pro391Leu
CA2277434
NM_000060.4:c.1172C>T