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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:
CA919754076
Gene:
Linked Data
dbSNP Id:
rs1597150438
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.82625451dup , CM000678.2:g.82625451dup
GRCh38
NC_000016.9:g.82659056dup , CM000678.1:g.82659056dup
GRCh37
NC_000016.8:g.81216557dup
NCBI36
NG_052819.1:g.3658dup
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