ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA243235
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196325
ClinVar RCV Id:
RCV000177130
RCV001832013
RCV002433771
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351.2:p.Pro10Ala
CA243233
NM_001360.3:c.28C>G