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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:
CA2197752749
Gene:
Linked Data
dbSNP Id:
rs1899532672
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.95782461_95782478del , CM000677.2:g.95782461_95782478del
GRCh38
NC_000015.9:g.96325690_96325707del , CM000677.1:g.96325690_96325707del
GRCh37
NC_000015.8:g.94126694_94126711del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_932654.1:n.148-42728_148-42711del
Search 100 bp 5'
Search 100 bp 3'