ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826216766
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161284
ClinVar RCV Id:
RCV000172963
RCV000414235
RCV000775070
RCV002051677
RCV002390311
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Asp355Asn
CA023502
NM_001195803.2:c.1063G>A