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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:
CA1918404075
Gene:
Linked Data
dbSNP Id:
rs200070208
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.70767582_70767585dup , CM000672.2:g.70767582_70767585dup
GRCh38
NC_000010.10:g.72527338_72527341dup , CM000672.1:g.72527338_72527341dup
GRCh37
NC_000010.9:g.72197344_72197347dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'