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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:
CA2170972556
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.38703216_38703217delinsTC , CM000677.2:g.38703216_38703217delinsTC
GRCh38
NC_000015.9:g.38995417_38995418delinsTC , CM000677.1:g.38995417_38995418delinsTC
GRCh37
NC_000015.8:g.36782709_36782710delinsTC
NCBI36
Search 100 bp 5'
Search 100 bp 3'