ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826608007
Gene: BFSP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1497022
ClinVar RCV Id:
RCV002019724
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265537.1:p.Thr509Ile
CA9771947
NM_001278608.2:c.1526C>T