ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580217862
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1785371
ClinVar RCV Id:
RCV002422120
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351.2:p.Gly70Ile
CA2580084822
NM_001360.3:c.207_209delinsCAT