ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915998454
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375785
ClinVar RCV Id:
RCV000417341
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Asp168Ala
CA16602301
NM_001195798.2:c.503A>C