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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:
CA2223209562
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.53529404_53529405delinsCT , CM000678.2:g.53529404_53529405delinsCT
GRCh38
NC_000016.9:g.53563316_53563317delinsCT , CM000678.1:g.53563316_53563317delinsCT
GRCh37
NC_000016.8:g.52120817_52120818delinsCT
NCBI36
Search 100 bp 5'
Search 100 bp 3'