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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:
CA1838163575
Gene: SLC24A2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.20145923_20145924delinsAC , CM000671.2:g.20145923_20145924delinsAC
GRCh38
NC_000009.11:g.20145921_20145922delinsAC , CM000671.1:g.20145921_20145922delinsAC
GRCh37
NC_000009.10:g.20135921_20135922delinsAC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_017014592.1:c.-528-141537_-528-141536delinsGT
XP_016870081.1:n.-528-141537_-528-141536d...
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