ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA117511
Gene: LTBP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5398
ClinVar RCV Id:
RCV000005729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003564.2:p.Cys274Gly
CA117509
NM_003573.2:c.820T>G