Canonical Allele Identifier: PA2828448890
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 38275
ClinVar RCV Id: RCV000021949 RCV000724129
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357681.1:p.Tyr190Cys
CA278239
NM_001370752.1:c.569A>G