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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:
PA2741809122
Gene: CYP17A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2544192
ClinVar RCV Id:
RCV003272394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000093.1:p.Gly47Ser
CA5669640
NM_000102.4:c.139G>A