ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580171178
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2061716
ClinVar RCV Id:
RCV002952889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Cys75Gly
CA404075569
NM_001195803.2:c.223T>G