ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825964197
Gene: DHCR7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
579753
ClinVar RCV:
RCV000728546
RCV000882330
RCV001672935
RCV002316093
ClinVar Variation:
588175
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Val76Ile
CA6162660
NM_001163817.2:c.226G>A