ClinGen Allele Registry
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Canonical Allele Identifier:
PA658813594
Gene: LDLRAP1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.7727
Score
0.9492
Linked Data - NCBI & NCI
ClinVar Allele:
511000
ClinVar RCV:
RCV000623682
ClinVar Variation:
520396
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056442.2:p.Ser288Leu
CA695773
NM_015627.3:c.863C>T