ClinGen Allele Registry
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Canonical Allele Identifier:
PA915998708
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000161962
RCV000211655
RCV000771313
RCV000844743
RCV002362854
ClinVar Variation:
183092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Asp221Gly
CA023739
NM_001195798.2:c.662A>G