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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:
CA1522633308
Gene:
Linked Data
dbSNP Id:
rs1755587878
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1392508del , CM000667.2:g.1392508del
GRCh38
NC_000005.9:g.1392623del , CM000667.1:g.1392623del
GRCh37
NC_000005.8:g.1445623del
NCBI36
NG_015885.1:g.57921del
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