ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573220630
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1487539
ClinVar RCV Id:
RCV002006534
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Gly1297Ser
CA3395105
NM_001999.4:c.3889G>A