ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139701938
Gene: FBN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Gln2392Lys
CA3394186
NM_001999.4:c.7174C>A