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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:
CA339707
Gene:
Linked Data
ClinVar Variation Id:
219050
ClinVar RCV Id:
RCV000203496
MyVariant Identifiers:
chr2:g.32378898_32384398del (hg19)
chr2:g.32153843_32159343del (hg38)
PubMed:
PMID:25065914
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.32153843_32159343del , CM000664.2:g.32153843_32159343del
GRCh38
NC_000002.11:g.32378912_32384412del , CM000664.1:g.32378912_32384412del
GRCh37
NC_000002.10:g.32232416_32237916del
NCBI36
NG_008730.1:g.95233_100733del , LRG_714:g.95233_100733del
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