Canonical Allele Identifier: PA2828445914
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 25029
ClinVar RCV Id: RCV000021951 RCV000078077
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357587.1:p.Arg191His
CA220331
NM_001370658.1:c.572G>A