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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:
CA1502599297
Gene:
Linked Data
dbSNP Id:
rs1731230650
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.148649565_148649568del , CM000666.2:g.148649565_148649568del
GRCh38
NC_000004.11:g.149570717_149570720del , CM000666.1:g.149570717_149570720del
GRCh37
NC_000004.10:g.149790167_149790170del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_939336.1:n.437-30697_437-30694del
XR_001741441.1:n.1745+104981_1745+104984del
XR_939336.3:n.2921-30697_2921-30694del
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