ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000950
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000238136
RCV000810496
RCV002418062
ClinVar Variation:
252173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Gly675Ser
CA038175
NM_001195798.2:c.2023G>A