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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:
CA2123181349
Gene:
Linked Data
dbSNP Id:
rs2039728571
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.22836385_22836406dup , CM000676.2:g.22836385_22836406dup
GRCh38
NC_000014.8:g.23305594_23305615dup , CM000676.1:g.23305594_23305615dup
GRCh37
NC_000014.7:g.22375434_22375455dup
NCBI36
NG_046989.1:g.4853_4874dup
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