ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658655283
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000509131
ClinVar Variation:
441199
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Asp307Tyr
CA404081050
NM_000527.5:c.919G>T