ClinGen Allele Registry
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Canonical Allele Identifier:
PA282225
Gene: FBN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
51534
ClinVar RCV:
RCV000035204
RCV001213084
ClinVar Variation:
42364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Cys1511Arg
CA015175
NM_000138.5:c.4531T>C