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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:
CA15912689
Gene: MPO
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3633
ClinVar RCV Id:
RCV000003817
RCV000003818
dbSNP Id:
rs2333227
gnomAD v2:
17-56358762-C-T
gnomAD v3:
17-58281401-C-T
gnomAD v4:
17-58281401-C-T
MyVariant Identifiers:
chr17:g.56358762C>T (hg19)
chr17:g.58281401C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.58281401C>T , CM000679.2:g.58281401C>T
GRCh38
NC_000017.10:g.56358762C>T , CM000679.1:g.56358762C>T
GRCh37
NC_000017.9:g.53713761C>T
NCBI36
NG_009629.1:g.4535G>A , LRG_84:g.4535G>A
Transcript Alleles
HGVS
Amino-acid change
XM_011524821.1:c.71-332G>A
XP_011523123.1:n.71-332G>A
XM_011524823.1:c.71-332G>A
XP_011523125.1:n.71-332G>A
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