ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916018305
Gene: LRP5
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001278831.1:p.Ala749Val
NM_001291902.2:c.2246C>T