ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826214648
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000238495
RCV000454858
RCV001191369
ClinVar Variation:
251603
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Asp174Tyr
CA10585255
NM_001195800.2:c.520G>T