ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826607841
Gene: BFSP1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000651348
ClinVar Variation:
541140
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265535.1:p.Glu329Gln
CA9772070
NM_001278606.2:c.985G>C