ClinGen Allele Registry
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Canonical Allele Identifier:
PA324912
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213352
ClinVar RCV Id:
RCV000200348
RCV000342918
RCV002315586
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Asp2304Asn
CA324911
NM_001999.4:c.6910G>A