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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:
CA2518241083
Gene:
Linked Data
dbSNP Id:
rs2100244736
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.55038967_55038988del , CM000663.2:g.55038967_55038988del
GRCh38
NC_000001.10:g.55504640_55504661del , CM000663.1:g.55504640_55504661del
GRCh37
NC_000001.9:g.55277228_55277249del
NCBI36
NG_009061.1:g.4421_4442del , LRG_275:g.4421_4442del
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