ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106762
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6789
ClinVar RCV Id:
RCV000007191
RCV000412788
RCV002371766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Thr289Ile
CA253946
NM_001163817.2:c.866C>T