ClinGen Allele Registry
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Canonical Allele Identifier:
PA645404477
Gene: FBN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
401015
ClinVar RCV:
RCV000474427
RCV000663564
ClinVar Variation:
406356
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Pro886Leu
CA16614816
NM_000138.5:c.2657C>T