ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826217253
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252144
ClinVar RCV Id:
RCV000237382
RCV003581636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Gln533Arg
CA10585706
NM_001195803.2:c.1598A>G