ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826212629
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000211615
RCV001037156
RCV002255136
RCV004017503
ClinVar Variation:
226334
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Asp225Asn
CA10576288
NM_001195799.2:c.673G>A