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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:
CA2160347305
Gene:
Linked Data
dbSNP Id:
rs2076020952
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.103551582A>T , CM000676.2:g.103551582A>T
GRCh38
NC_000014.8:g.104017919A>T , CM000676.1:g.104017919A>T
GRCh37
NC_000014.7:g.103087672A>T
NCBI36
Search 100 bp 5'
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