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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:
CA58390180
Gene:
Linked Data
dbSNP Id:
rs200846143
gnomAD v2:
2-150937116-A-AC
gnomAD v3:
2-150080602-A-AC
gnomAD v4:
2-150080602-A-AC
MyVariant Identifiers:
chr2:g.150937116_150937117insC (hg19)
chr2:g.150080602_150080603insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.150080602_150080603insC , CM000664.2:g.150080602_150080603insC
GRCh38
NC_000002.11:g.150937116_150937117insC , CM000664.1:g.150937116_150937117insC
GRCh37
NC_000002.10:g.150645362_150645363insC
NCBI36
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