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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:
CA782439002
Gene:
Linked Data
dbSNP Id:
rs1254582439
MyVariant Identifiers:
chr18:g.72786974del (hg19)
chr18:g.75075018del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.75075018del , CM000680.2:g.75075018del
GRCh38
NC_000018.9:g.72786974del , CM000680.1:g.72786974del
GRCh37
NC_000018.8:g.70915962del
NCBI36
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