ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826213467
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000003886
RCV000161997
RCV000587938
RCV002390088
ClinVar Variation:
3698
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Gly508Asp
CA023546
NM_001195799.2:c.1523G>A