ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA324231
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213323
ClinVar RCV Id:
RCV000199686
RCV001307203
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Met1337Val
CA324230
NM_001999.4:c.4009A>G