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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:
CA2608488245
Gene: MIR1915HG
HGNC
NCBI
Linked Data
gnomAD v4:
10-21494708-GT-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.21494709del , CM000672.2:g.21494709del
GRCh38
NC_000010.10:g.21783638del , CM000672.1:g.21783638del
GRCh37
NC_000010.9:g.21823644del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000377113.5:c.*891del
ENSP00000366317.5:n.*891del
NM_001010911.2:c.*891del
NP_001010911.1:n.*891del
NM_001010911.3:c.*891del
NP_001010911.1:n.*891del
NR_160800.1:n.1748del
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