ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825964535
Gene: DHCR7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
546558
ClinVar RCV:
RCV000666844
ClinVar Variation:
551712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Gly366Val
CA381702049
NM_001163817.2:c.1097G>T