ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573185883
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1321218
ClinVar RCV Id:
RCV002227545
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Ser517Phe
CA404086568
NM_001195798.2:c.1550C>T