ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828937972
Gene: FBLN5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371088.1:p.Cys234Arg
CA342104
NM_001384159.1:c.700T>C