Canonical Allele Identifier: PA2828446003
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 379232
ClinVar RCV Id: RCV000428786 RCV000675056
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357587.1:p.Ala269Val
CA16604827
NM_001370658.1:c.806C>T