ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580217855
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1693399
ClinVar RCV Id:
RCV002260810
RCV003365718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351.2:p.Ala24Glu
CA6162715
NM_001360.3:c.71C>A