ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828938303
Gene: FBLN5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
34306
ClinVar RCV:
RCV000020642
RCV003447089
ClinVar Variation:
21454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371089.1:p.Cys217Arg
CA342104
NM_001384160.1:c.649T>C