ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658805817
Gene: BFSP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
541140
ClinVar RCV Id:
RCV000651348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186.1:p.Glu468Gln
CA9772070
NM_001195.5:c.1402G>C