ClinGen Allele Registry
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Canonical Allele Identifier:
PA295223
Gene: FBN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
171171
ClinVar RCV:
RCV000148490
RCV001189650
RCV003764895
ClinVar Variation:
161236
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Ser2832Gly
CA017789
NM_000138.5:c.8494A>G