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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:
CA788842532
Gene:
Linked Data
dbSNP Id:
rs1439155523
MyVariant Identifiers:
chr4:g.149570704_149570705insATTTTAGAC (hg19)
chr4:g.148649552_148649553insATTTTAGAC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.148649554_148649562dup , CM000666.2:g.148649554_148649562dup
GRCh38
NC_000004.11:g.149570706_149570714dup , CM000666.1:g.149570706_149570714dup
GRCh37
NC_000004.10:g.149790156_149790164dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_939336.1:n.437-30693_437-30685dup
XR_001741441.1:n.1745+104970_1745+104978dup
XR_939336.3:n.2921-30693_2921-30685dup
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