ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825964671
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
520690
ClinVar RCV Id:
RCV000622787
RCV000762863
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Leu470Gln
CA381700454
NM_001163817.2:c.1409T>A