ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645443904
Gene: LRP5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_002326.2:p.Ala1330Val
NM_002335.4:c.3989C>T