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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:
CA813569867
Gene:
Linked Data
dbSNP Id:
rs1174317249
MyVariant Identifiers:
chr5:g.69345327_69345328del (hg19)
chr5:g.70049500_70049501del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.70049504_70049505del , CM000667.2:g.70049504_70049505del
GRCh38
NC_000005.9:g.69345331_69345332del , CM000667.1:g.69345331_69345332del
GRCh37
NC_000005.8:g.69381087_69381088del
NCBI36
NG_008728.1:g.4982_4983del
Transcript Alleles
HGVS
Amino-acid Change
XR_948432.1:n.1054+61500_1054+61501del
Search 100 bp 5'
Search 100 bp 3'