ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645376346
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251283
ClinVar RCV Id:
RCV000237892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Asp178Asn
CA10584973
NM_000527.5:c.532G>A