ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916001770
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251040
ClinVar RCV Id:
RCV000238214
RCV003329270
RCV003765484
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Asp57Asn
CA10584771
NM_001195803.2:c.169G>A