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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:
CA1275246477
Gene:
Linked Data
dbSNP Id:
rs1681039230
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.102403314del , CM000664.2:g.102403314del
GRCh38
NC_000002.11:g.103019774del , CM000664.1:g.103019774del
GRCh37
NC_000002.10:g.102386206del
NCBI36
Search 100 bp 5'
Search 100 bp 3'