ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA129854
Gene: LTBP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000024328
RCV003338387
RCV003987333
ClinVar Variation:
31630
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000419.1:p.Cys1438Tyr
CA129853
NM_000428.3:c.4313G>A