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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:
CA2123181373
Gene:
Linked Data
dbSNP Id:
rs2039728907
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.22836417dup , CM000676.2:g.22836417dup
GRCh38
NC_000014.8:g.23305626dup , CM000676.1:g.23305626dup
GRCh37
NC_000014.7:g.22375466dup
NCBI36
NG_046989.1:g.4885dup
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