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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573206554
Gene: DHCR7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1477868
ClinVar RCV Id:
RCV001971809
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351.2:p.Asn274Thr
CA6162452
NM_001360.3:c.821A>C