ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645379055
Gene: LDLR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Gly546Val
CA10585538
NM_000527.5:c.1637G>T