ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826217510
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000237470
RCV000771548
RCV001589203
RCV002450754
ClinVar Variation:
252360
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Val681Met
CA041346
NM_001195803.2:c.2041G>A