ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645465133
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
263329
ClinVar RCV Id:
RCV000252393
RCV001857853
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Ala2679Ser
CA10587595
NM_001999.4:c.8035G>T