ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645510837
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
440627
ClinVar RCV Id:
RCV000508869
RCV001183223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Asp386Tyr
CA404083811
NM_000527.5:c.1156G>T