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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:
CA2224388412
Gene:
Linked Data
dbSNP Id:
rs2055973849
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.56954029_56954037del , CM000678.2:g.56954029_56954037del
GRCh38
NC_000016.9:g.56987941_56987949del , CM000678.1:g.56987941_56987949del
GRCh37
NC_000016.8:g.55545442_55545450del
NCBI36
Search 100 bp 5'
Search 100 bp 3'