ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828937982
Gene: FBLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
314877
ClinVar RCV Id:
RCV000308840
RCV000358898
RCV001850661
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371088.1:p.Gly243Ser
CA7312762
NM_001384159.1:c.727G>A