ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA323990
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213218
ClinVar RCV Id:
RCV000294775
RCV001721270
RCV002310770
RCV003417706
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Ala23Gly
CA323989
NM_001999.4:c.68C>G