ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580528130
Gene: FBLN7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2387901
ClinVar RCV Id:
RCV004224763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694946.2:p.Leu77Phe
CA1832725
NM_153214.3:c.229C>T