ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825964346
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430220
ClinVar RCV Id:
RCV000493359
RCV000668765
RCV002271516
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Tyr219Asp
CA6162499
NM_001163817.2:c.655T>G