ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645485989
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
305953
ClinVar RCV Id:
RCV000316974
RCV000595632
RCV002374522
RCV003920263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351.2:p.Gly425Ser
CA6162273
NM_001360.3:c.1273G>A