Canonical Allele Identifier: PA916048554
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 25059
ClinVar RCV Id: RCV000021982
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357587.1:p.Pro349Leu
CA278291
NM_001370658.1:c.1046C>T