ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825208383
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3073808
ClinVar RCV Id:
RCV004016814
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Asp54Val
CA404074953
NM_000527.5:c.161A>T