ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826212434
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3070679
ClinVar RCV Id:
RCV004013189
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Ser171Cys
CA404078077
NM_001195799.2:c.512C>G