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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:
CA2434961487
Gene:
Linked Data
dbSNP Id:
rs1728077968
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.67350193del , CM000685.2:g.67350193del
GRCh38
NC_000023.10:g.66570035del , CM000685.1:g.66570035del
GRCh37
NC_000023.9:g.66486760del
NCBI36
Search 100 bp 5'
Search 100 bp 3'