ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580528132
Gene: FBLN7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2316347
ClinVar RCV Id:
RCV004161314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694946.2:p.Arg192Leu
CA348245884
NM_153214.3:c.575G>T