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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:
CA921447445
Gene: CYP21A2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NT_167249.2:g.3339720del , GL000256.2:g.3339720del
Transcript Alleles
HGVS
Amino-acid change
XM_011548387.1:c.-314del
XP_011546689.1:n.-314del
Search 100 bp 5'
Search 100 bp 3'