ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA058044
Gene: BFSP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242475
ClinVar RCV Id:
RCV001322549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186.1:p.Ile271Thr
CA057949
NM_001195.5:c.812T>C