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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:
CA1139151376
Gene:
Linked Data
dbSNP Id:
rs2052989219
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.11939659dup , CM000686.2:g.11939659dup
GRCh38
NC_000024.9:g.14060365dup , CM000686.1:g.14060365dup
GRCh37
NC_000024.8:g.12570365dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'