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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:
CA2237822200
Gene:
Linked Data
dbSNP Id:
rs1907182034
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.82625549del , CM000678.2:g.82625549del
GRCh38
NC_000016.9:g.82659154del , CM000678.1:g.82659154del
GRCh37
NC_000016.8:g.81216655del
NCBI36
NG_052819.1:g.3756del
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