ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA118358
Gene: BFSP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6584
ClinVar RCV Id:
RCV000006962
RCV000056968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003562.1:p.Glu233del
CA118357
NM_003571.4:c.697_699del