ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573188542
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1519513
ClinVar RCV Id:
RCV002038313
RCV004011161
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Gln191Pro
CA404077452
NM_001195798.2:c.572A>C