ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499241810
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1120248
ClinVar RCV Id:
RCV001450034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Cys34Trp
CA404074695
NM_001195803.2:c.102C>G