ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA119029
Gene: VDR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008191
ClinVar Variation:
7750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001017535.1:p.Arg50Gln
CA119028
NM_001017535.2:c.149G>A