ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826216454
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
923427
ClinVar RCV Id:
RCV001184127
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Lys249Met
CA404083602
NM_001195803.2:c.746A>T