ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825964247
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197725
ClinVar RCV Id:
RCV000178841
RCV000297594
RCV002314649
RCV003488428
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157289.1:p.Val126Ile
CA246030
NM_001163817.2:c.376G>A