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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:
CA773487879
Gene: MPO
HGNC
NCBI
Linked Data
dbSNP Id:
rs1161538002
gnomAD v3:
17-58281290-AT-A
gnomAD v4:
17-58281290-AT-A
MyVariant Identifiers:
chr17:g.56358652del (hg19)
chr17:g.58281291del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.58281295del , CM000679.2:g.58281295del
GRCh38
NC_000017.10:g.56358656del , CM000679.1:g.56358656del
GRCh37
NC_000017.9:g.53713655del
NCBI36
NG_009629.1:g.4645del , LRG_84:g.4645del
Transcript Alleles
HGVS
Amino-acid Change
XM_011524821.1:c.71-222del
XP_011523123.1:n.71-222del
XM_011524823.1:c.71-222del
XP_011523125.1:n.71-222del
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