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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:
CA1887456622
Gene: AKR1C6P
HGNC
NCBI
AKR1E2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1835167272
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.4886267del , CM000672.2:g.4886267del
GRCh38
NC_000010.10:g.4928459del , CM000672.1:g.4928459del
GRCh37
NC_000010.9:g.4918459del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000432950.1:n.456-747del
(AKR1C6P)
NR_026743.1:n.652+1071del
(AKR1C6P)
XM_017016744.1:c.*14-22084del
(AKR1E2)
XP_016872233.1:n.*14-22084del
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