Canonical Allele Identifier: PA2827195721
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1923024
ClinVar RCV Id: RCV002617941
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Met141Ile
CA351606182
NM_001323582.1:c.423G>A
CA351606183
NM_001323582.1:c.423G>C
CA351606184
NM_001323582.1:c.423G>T