Canonical Allele Identifier: PA2827195850
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 156004
ClinVar RCV Id: RCV000144061 RCV000494587
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Asn280His
CA278441
NM_001323582.1:c.838A>C