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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:
CA2157878739
Gene:
Linked Data
dbSNP Id:
rs1890719992
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.98374113del , CM000676.2:g.98374113del
GRCh38
NC_000014.8:g.98840450del , CM000676.1:g.98840450del
GRCh37
NC_000014.7:g.97910203del
NCBI36
Search 100 bp 5'
Search 100 bp 3'