ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826213556
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003742418
ClinVar Variation:
2872499
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Ser539Thr
CA404089697
NM_001195799.2:c.1615T>A