ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000842
Gene: LDLR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Pro649Leu
CA10585689
NM_001195798.2:c.1946C>T