ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915956584
Gene: VDR
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001017536.1:p.Val396Met
NM_001017536.2:c.1186G>A