ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826216317
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000210827
RCV003741160
ClinVar Variation:
225181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Gly208Asp
CA358775
NM_001195803.2:c.623G>A