ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580154230
Gene: LTBP3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002658715
ClinVar Variation:
1946183
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123616.1:p.Pro1111Leu
CA381267119
NM_001130144.3:c.3332C>T