ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826217284
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
629507
ClinVar RCV Id:
RCV000774216
RCV004001367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Val549Asp
CA404094881
NM_001195803.2:c.1646T>A