Canonical Allele Identifier: PA2828445712
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 24989
ClinVar RCV Id: RCV000021907 RCV001171830 RCV001800312
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357587.1:p.Ala62Val
CA278170
NM_001370658.1:c.185C>T