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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:
CA536956552
Gene:
Linked Data
dbSNP Id:
rs199953343
gnomAD v2:
2-150937114-C-CA
gnomAD v3:
2-150080600-C-CA
gnomAD v4:
2-150080600-C-CA
MyVariant Identifiers:
chr2:g.150937117_150937118insA (hg19)
chr2:g.150937114_150937115insA (hg19)
chr2:g.150080603_150080604insA (hg38)
chr2:g.150080600_150080601insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.150080612dup , CM000664.2:g.150080612dup
GRCh38
NC_000002.11:g.150937126dup , CM000664.1:g.150937126dup
GRCh37
NC_000002.10:g.150645372dup
NCBI36
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