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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:
CA247677196
Gene:
Linked Data
dbSNP Id:
rs956377868
gnomAD v3:
13-28658986-GGC-G
gnomAD v4:
13-28658986-GGC-G
MyVariant Identifiers:
chr13:g.29233124_29233125del (hg19)
chr13:g.28658987_28658988del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.28658987_28658988del , CM000675.2:g.28658987_28658988del
GRCh38
NC_000013.10:g.29233124_29233125del , CM000675.1:g.29233124_29233125del
GRCh37
NC_000013.9:g.28131124_28131125del
NCBI36
NG_027550.1:g.4984_4985del
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