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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:
CA1962313224
Gene: THEM7P
HGNC
NCBI
Linked Data
dbSNP Id:
rs1851368254
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.32342666del , CM000673.2:g.32342666del
GRCh38
NC_000011.9:g.32364212del , CM000673.1:g.32364212del
GRCh37
NC_000011.8:g.32320788del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000525689.2:n.122+623del
ENST00000525689.1:n.122+623del
Search 100 bp 5'
Search 100 bp 3'