ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826215030
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
183116
ClinVar RCV Id:
RCV000161988
RCV000237883
RCV000844749
RCV000775068
RCV002390395
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Asp304Tyr
CA023492
NM_001195800.2:c.910G>T