ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100033
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226331
ClinVar RCV Id:
RCV000211605
RCV000791440
RCV001596987
RCV002372213
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Asp221Asn
CA10576287
NM_000527.5:c.661G>A