ClinGen Allele Registry
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Canonical Allele Identifier:
PA916001455
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237873
ClinVar RCV Id:
RCV001273281
RCV002478838
RCV002450673
RCV002494626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Asp77Asn
CA10583773
NM_001195799.2:c.229G>A