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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:
CA2497145393
Gene:
Linked Data
dbSNP Id:
rs1764335095
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.54400518_54400525del , CM000668.2:g.54400518_54400525del
GRCh38
NC_000006.11:g.54265316_54265323del , CM000668.1:g.54265316_54265323del
GRCh37
NC_000006.10:g.54373275_54373282del
NCBI36
Search 100 bp 5'
Search 100 bp 3'