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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:
CA707588569
Gene:
Linked Data
dbSNP Id:
rs1479364522
MyVariant Identifiers:
chr14:g.62968432_62968433insAATA (hg19)
chr14:g.62501714_62501715insAATA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.62501715_62501718dup , CM000676.2:g.62501715_62501718dup
GRCh38
NC_000014.8:g.62968433_62968436dup , CM000676.1:g.62968433_62968436dup
GRCh37
NC_000014.7:g.62038186_62038189dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_943932.1:n.116-2326_116-2323dup
XR_943932.2:n.103-2326_103-2323dup
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