ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100715
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000238417
RCV000255176
RCV000586642
RCV002051660
RCV002345455
ClinVar Variation:
161267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Leu401Val
CA023432
NM_000527.5:c.1201C>G