ClinGen Allele Registry
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Canonical Allele Identifier:
PA144574
Gene: FBLN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006477.2:p.Cys397Phe
CA144573
NM_006486.2:c.1190G>T