ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915999757
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000238417
RCV000255176
RCV000586642
RCV002051660
RCV002345455
ClinVar Variation:
161267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Leu401Val
CA023432
NM_001195798.2:c.1201C>G