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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:
CA2180493752
Gene:
Linked Data
dbSNP Id:
rs1899946775
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.58750193_58750195del , CM000677.2:g.58750193_58750195del
GRCh38
NC_000015.9:g.59042392_59042394del , CM000677.1:g.59042392_59042394del
GRCh37
NC_000015.8:g.56829684_56829686del
NCBI36
NG_033876.1:g.4789_4791del
NG_033876.2:g.4518_4520del
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