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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:
CA2223578855
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.55211036_55211037delinsCT , CM000678.2:g.55211036_55211037delinsCT
GRCh38
NC_000016.9:g.55244948_55244949delinsCT , CM000678.1:g.55244948_55244949delinsCT
GRCh37
NC_000016.8:g.53802449_53802450delinsCT
NCBI36
Search 100 bp 5'
Search 100 bp 3'