Canonical Allele Identifier: PA2828445702
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 38567
ClinVar RCV Id: RCV000021905 RCV003125847 RCV003993755
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357587.1:p.Arg59His
CA278166
NM_001370658.1:c.176G>A