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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:
CA64130758
Gene:
Linked Data
dbSNP Id:
rs926869055
MyVariant Identifiers:
chr2:g.199679005_199679007del (hg19)
chr2:g.198814281_198814283del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.198814292_198814294del , CM000664.2:g.198814292_198814294del
GRCh38
NC_000002.11:g.199679016_199679018del , CM000664.1:g.199679016_199679018del
GRCh37
NC_000002.10:g.199387261_199387263del
NCBI36
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Search 100 bp 3'