ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101669
Gene: FBN2
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001990.2:p.Cys1142Phe
NM_001999.4:c.3425G>T