ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916000672
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
440662
ClinVar RCV Id:
RCV000508798
RCV003581677
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Lys603Arg
CA404089821
NM_001195798.2:c.1808A>G