ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139697997
Gene: LDLR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Gly324Cys
CA404082654
NM_001195798.2:c.970G>T