ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916001067
Gene: LDLR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Met702Ile
CA038604
NM_001195798.2:c.2106G>A
CA038621
NM_001195798.2:c.2106G>C
CA404093934
NM_001195798.2:c.2106G>T