ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826217457
Gene: LDLR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Asn647Lys
CA023675
NM_001195803.2:c.1941C>G
CA040801
NM_001195803.2:c.1941C>A