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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:
CA2631848343
Gene: MIR193BHG
HGNC
NCBI
Linked Data
gnomAD v4:
16-14301506-AG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.14301510del , CM000678.2:g.14301510del
GRCh38
NC_000016.9:g.14395367del , CM000678.1:g.14395367del
GRCh37
NC_000016.8:g.14302868del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_170633.1:n.130del
Search 100 bp 5'
Search 100 bp 3'