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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:
CA1490278001
Gene:
Linked Data
dbSNP Id:
rs1797485631
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.122432111_122432114dup , CM000666.2:g.122432111_122432114dup
GRCh38
NC_000004.11:g.123353266_123353269dup , CM000666.1:g.123353266_123353269dup
GRCh37
NC_000004.10:g.123572716_123572719dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'