ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828938314
Gene: FBLN5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371089.1:p.Ser227Pro
CA340430
NM_001384160.1:c.679T>C