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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:
CA2100532430
Gene:
Linked Data
dbSNP Id:
rs1241938134
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.70675440_70675452dup , CM000675.2:g.70675440_70675452dup
GRCh38
NC_000013.10:g.71249572_71249584dup , CM000675.1:g.71249572_71249584dup
GRCh37
NC_000013.9:g.70147573_70147585dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'