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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:
PA110539
Gene: CYP11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17522
ClinVar RCV Id:
RCV000019074
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000772.2:p.Leu141Trp
CA127240
NM_000781.3:c.422T>G