ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573067239
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1341568
ClinVar RCV Id:
RCV001837064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Asn405Ile
CA404084704
NM_001195798.2:c.1214A>T