ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825964146
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
397518
ClinVar RCV Id:
RCV000449598
RCV000728279
RCV002374732
RCV003418143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Gly30Ala
CA6162711
NM_001163817.2:c.89G>C