ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645464798
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411819
ClinVar RCV Id:
RCV000459625
RCV003221992
RCV003380580
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Pro1135Leu
CA3395247
NM_001999.4:c.3404C>T