ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645461579
Gene: BFSP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
343412
ClinVar RCV Id:
RCV000383474
RCV003409549
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003562.1:p.Glu289Lys
CA2623385
NM_003571.4:c.865G>A