ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645378947
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237863
ClinVar RCV Id:
RCV000231049
RCV001376907
RCV003422135
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Gly529Asp
CA10583777
NM_000527.5:c.1586G>A