ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826215629
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3074471
ClinVar RCV Id:
RCV004014005
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Asn520Ser
CA404093739
NM_001195800.2:c.1559A>G