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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:
CA613688808
Gene:
Linked Data
dbSNP Id:
rs1280829124
gnomAD v2:
14-41803102-G-GAC
gnomAD v3:
14-41333899-G-GAC
gnomAD v4:
14-41333899-G-GAC
MyVariant Identifiers:
chr14:g.41803102_41803103insAC (hg19)
chr14:g.41333899_41333900insAC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.41333899_41333900insAC , CM000676.2:g.41333899_41333900insAC
GRCh38
NC_000014.8:g.41803102_41803103insAC , CM000676.1:g.41803102_41803103insAC
GRCh37
NC_000014.7:g.40872852_40872853insAC
NCBI36
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