ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826216461
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
183108
ClinVar RCV Id:
RCV000161980
RCV000238222
RCV001034680
RCV003162682
RCV003422054
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Gln251Pro
CA023422
NM_001195803.2:c.752A>C