ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA346349
Gene: FBN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
178691
ClinVar RCV:
RCV000157231
RCV001850179
ClinVar Variation:
180357
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Phe1954Cys
CA016122
NM_000138.5:c.5861T>G