ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645461582
Gene: BFSP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252953
ClinVar RCV Id:
RCV000490770
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003562.1:p.Ala379Glu
CA2623462
NM_003571.4:c.1136C>A