ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645378584
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000408875
RCV003766118
ClinVar Variation:
369856
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Ser470Gly
CA10654852
NM_000527.5:c.1408A>G