ClinGen Allele Registry
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Canonical Allele Identifier:
PA658676040
Gene: DHCR7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
461979
ClinVar RCV:
RCV000525900
RCV001280755
ClinVar Variation:
458678
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351.2:p.Tyr324His
CA381702573
NM_001360.3:c.970T>C