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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
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Canonical Allele Identifier:
CA1502599286
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.148649561_148649565delinsCACTT , CM000666.2:g.148649561_148649565delinsCACTT
GRCh38
NC_000004.11:g.149570713_149570717delinsCACTT , CM000666.1:g.149570713_149570717delinsCACTT
GRCh37
NC_000004.10:g.149790163_149790167delinsCACTT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_939336.1:n.437-30697_437-30693delinsAAGTG
XR_001741441.1:n.1745+104977_1745+104981delinsCACTT
XR_939336.3:n.2921-30697_2921-30693delinsAAGTG
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