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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:
CA707588597
Gene:
Linked Data
dbSNP Id:
rs1446290768
MyVariant Identifiers:
chr14:g.62968440_62968444del (hg19)
chr14:g.62501722_62501726del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.62501724_62501728del , CM000676.2:g.62501724_62501728del
GRCh38
NC_000014.8:g.62968442_62968446del , CM000676.1:g.62968442_62968446del
GRCh37
NC_000014.7:g.62038195_62038199del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_943932.1:n.116-2317_116-2313del
XR_943932.2:n.103-2317_103-2313del
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