Canonical Allele Identifier: PA645380067
Gene: LDLR HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Pro661Leu
CA16602341
NM_000527.5:c.1982C>T