Canonical Allele Identifier: PA645375508
Gene: LDLR HGNC NCBI
ClinVar RCV:
RCV000237930
ClinVar Variation:
251087
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asn80Lys
CA10584802
NM_000527.5:c.240C>A
CA404075598
NM_000527.5:c.240C>G