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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:
CA919489771
Gene:
Linked Data
dbSNP Id:
rs1595178625
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.99683111del , CM000676.2:g.99683111del
GRCh38
NC_000014.8:g.100149448del , CM000676.1:g.100149448del
GRCh37
NC_000014.7:g.99219201del
NCBI36
NG_007963.1:g.3694del
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