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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:
CA917863206
Gene:
Linked Data
dbSNP Id:
rs1562181749
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.132572625_132572628del , CM000668.2:g.132572625_132572628del
GRCh38
NC_000006.11:g.132893764_132893767del , CM000668.1:g.132893764_132893767del
GRCh37
NC_000006.10:g.132935457_132935460del
NCBI36
NG_016544.1:g.7304_7307del
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