ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580263287
Gene: FBN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Val344Phe
CA360753378
NM_001999.4:c.1030G>T