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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:
CA1676979773
Gene: SLC22A2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160260260_160260262delinsAAT , CM000668.2:g.160260260_160260262delinsAAT
GRCh38
NC_000006.11:g.160681292_160681294delinsAAT , CM000668.1:g.160681292_160681294delinsAAT
GRCh37
NC_000006.10:g.160601282_160601284delinsAAT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000366952.1:c.-871_-869delinsATT
ENSP00000355919.1:n.-871_-869delinsATT
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