Canonical Allele Identifier: PA2826591292
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 25090
ClinVar RCV Id: RCV000022015 RCV002513165 RCV002477005
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268653.2:p.His465Gln
CA278342
NM_001281724.3:c.1395C>G
CA351608922
NM_001281724.3:c.1395C>A