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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:
CA1327644353
Gene: MREG
HGNC
NCBI
PECR
HGNC
NCBI
Linked Data
dbSNP Id:
rs1694750039
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.216033854_216033872del , CM000664.2:g.216033854_216033872del
GRCh38
NC_000002.11:g.216898577_216898595del , CM000664.1:g.216898577_216898595del
GRCh37
NC_000002.10:g.216606822_216606840del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000424992.5:c.-68+90_-68+108del
(MREG)
ENSP00000413302.1:n.-68+90_-68+108del
ENST00000442122.5:c.*440+5319_*440+5337del
(PECR)
ENSP00000395512.1:n.*440+5319_*440+5337del
XR_001738847.2:n.1056-1020_1056-1002del
(PECR)
NM_001372189.1:c.-68+90_-68+108del
(MREG)
NP_001359118.1:n.-68+90_-68+108del
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