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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:
CA598468984
Gene: THEM7P
HGNC
NCBI
Linked Data
dbSNP Id:
rs1288310166
gnomAD v2:
11-32364220-T-TCCCACTAC
gnomAD v3:
11-32342674-T-TCCCACTAC
gnomAD v4:
11-32342674-T-TCCCACTAC
MyVariant Identifiers:
chr11:g.32364220_32364221insCCCACTAC (hg19)
chr11:g.32342674_32342675insCCCACTAC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.32342675_32342682dup , CM000673.2:g.32342675_32342682dup
GRCh38
NC_000011.9:g.32364221_32364228dup , CM000673.1:g.32364221_32364228dup
GRCh37
NC_000011.8:g.32320797_32320804dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000525689.2:n.122+606_122+613dup
ENST00000525689.1:n.122+606_122+613dup
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