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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:
CA1312507980
Gene:
Linked Data
dbSNP Id:
rs1695372767
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.182820860_182820864del , CM000664.2:g.182820860_182820864del
GRCh38
NC_000002.11:g.183685587_183685591del , CM000664.1:g.183685587_183685591del
GRCh37
NC_000002.10:g.183393832_183393836del
NCBI36
Search 100 bp 5'
Search 100 bp 3'