ClinGen Allele Registry
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Canonical Allele Identifier:
PA131185
Gene: FBN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
51518
ClinVar RCV:
RCV000035187
RCV001343735
RCV003528139
RCV003996188
ClinVar Variation:
42348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Asn1369Ser
CA014768
NM_000138.5:c.4106A>G