ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828938879
Gene: FBLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1317179
ClinVar RCV Id:
RCV001759051
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371091.1:p.Asp308Asn
CA390640732
NM_001384162.1:c.922G>A