ClinGen Allele Registry
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Canonical Allele Identifier:
PA151342
Gene: LTBP2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000114811
RCV000346813
RCV000385005
RCV003556164
ClinVar Variation:
126954
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000419.1:p.Glu1191Lys
CA151341
NM_000428.3:c.3571G>A