ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915998580
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
431512
ClinVar RCV Id:
RCV000497065
RCV003321637
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Pro181Leu
CA305296856
NM_001195798.2:c.542C>T