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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:
CA708023253
Gene:
Linked Data
dbSNP Id:
rs1487931265
gnomAD v3:
14-68807223-AC-A
gnomAD v4:
14-68807223-AC-A
MyVariant Identifiers:
chr14:g.69273941del (hg19)
chr14:g.68807224del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.68807224del , CM000676.2:g.68807224del
GRCh38
NC_000014.8:g.69273941del , CM000676.1:g.69273941del
GRCh37
NC_000014.7:g.68343694del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011537441.1:c.673-570del
XP_011535743.1:n.673-570del
XM_011537442.1:c.673-570del
XP_011535744.1:n.673-570del
XM_011537443.1:c.673-570del
XP_011535745.1:n.673-570del
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