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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:
CA985008538
Gene: MPO
HGNC
NCBI
Linked Data
dbSNP Id:
rs1970516576
gnomAD v3:
17-58281196-TGCCTCA-T
gnomAD v4:
17-58281196-TGCCTCA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.58281202_58281207del , CM000679.2:g.58281202_58281207del
GRCh38
NC_000017.10:g.56358563_56358568del , CM000679.1:g.56358563_56358568del
GRCh37
NC_000017.9:g.53713562_53713567del
NCBI36
NG_009629.1:g.4734_4739del , LRG_84:g.4734_4739del
Transcript Alleles
HGVS
Amino-acid change
XM_011524821.1:c.71-133_71-128del
XP_011523123.1:n.71-133_71-128del
XM_011524823.1:c.71-133_71-128del
XP_011523125.1:n.71-133_71-128del
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