ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645478214
Gene: LTBP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
314266
ClinVar RCV Id:
RCV000271643
RCV000307991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000419.1:p.Cys1757Phe
CA10640921
NM_000428.3:c.5270G>T