ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828938389
Gene: FBLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2797677
ClinVar RCV Id:
RCV003673342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371089.1:p.Met353Val
CA390640872
NM_001384160.1:c.1057A>G