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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:
CA1838163540
Gene: SLC24A2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.20145889_20145891delinsATT , CM000671.2:g.20145889_20145891delinsATT
GRCh38
NC_000009.11:g.20145887_20145889delinsATT , CM000671.1:g.20145887_20145889delinsATT
GRCh37
NC_000009.10:g.20135887_20135889delinsATT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_017014592.1:c.-528-141504_-528-141502delinsAAT
XP_016870081.1:n.-528-141504_-528-141502d...
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