ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826214581
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000162021
RCV000237236
RCV000455308
RCV000771170
RCV002051656
RCV002371990
ClinVar Variation:
161263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Gly156Ser
CA023801
NM_001195800.2:c.466G>A