ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645510863
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438324
ClinVar RCV Id:
RCV000505222
RCV001509013
RCV003159635
RCV003581672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Leu575Phe
CA404089677
NM_000527.5:c.1723C>T