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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:
CA2708496937
Gene:
Linked Data
dbSNP Id:
rs2126528497
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.16038062del , CM000667.2:g.16038062del
GRCh38
NC_000005.9:g.16038171del , CM000667.1:g.16038171del
GRCh37
NC_000005.8:g.16091171del
NCBI36
Search 100 bp 5'
Search 100 bp 3'