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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:
CA914700209
Gene: MIRLET7BHG
HGNC
NCBI
Linked Data
dbSNP Id:
rs1569162674
gnomAD v2:
22-46507500-CAG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.46111623_46111624del , CM000684.2:g.46111623_46111624del
GRCh38
NC_000022.10:g.46507503_46507504del , CM000684.1:g.46507503_46507504del
GRCh37
NC_000022.9:g.44886167_44886168del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_027033.2:n.2412_2413del
NR_110479.1:n.2261_2262del
Search 100 bp 5'
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