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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:
CA104808740
Gene:
Linked Data
dbSNP Id:
rs386679131
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.122432122_122432141delinsTCCC , CM000666.2:g.122432122_122432141delinsTCCC
GRCh38
NC_000004.11:g.123353277_123353296delinsTCCC , CM000666.1:g.123353277_123353296delinsTCCC
GRCh37
NC_000004.10:g.123572727_123572746delinsTCCC
NCBI36
Search 100 bp 5'
Search 100 bp 3'