ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825969781
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_001157738.1:p.Ser579Cys
CA381270800
NM_001164266.1:c.1736C>G