ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669009
Gene: LTBP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448911
ClinVar RCV Id:
RCV000523149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123616.1:p.Ser696Cys
CA381270800
NM_001130144.3:c.2087C>G