ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA119045
Gene: VDR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001017535.1:p.Val346Met
NM_001017535.2:c.1036G>A