ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825964319
Gene: DHCR7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001949400
ClinVar Variation:
1458037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Ser192Phe
CA6162531
NM_001163817.2:c.575C>T