ClinGen Allele Registry
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Canonical Allele Identifier:
PA916001894
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3685
ClinVar RCV Id:
RCV000003870
RCV000622852
RCV000776466
RCV000844748
RCV002426484
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Trp87Gly
CA023683
NM_001195803.2:c.259T>G