ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499241926
Gene: BFSP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1056991
ClinVar RCV Id:
RCV001365899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186.1:p.Thr490Ala
CA9772054
NM_001195.5:c.1468A>G