Canonical Allele Identifier: PA2828446280
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 2504647
ClinVar RCV Id: RCV003233062
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357587.1:p.Cys451Phe
CA351608802
NM_001370658.1:c.1352G>T