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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:
CA861972182
Gene: SLC24A2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1299521482
MyVariant Identifiers:
chr9:g.20145911_20145923del (hg19)
chr9:g.20145913_20145925del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.20145919_20145931del , CM000671.2:g.20145919_20145931del
GRCh38
NC_000009.11:g.20145917_20145929del , CM000671.1:g.20145917_20145929del
GRCh37
NC_000009.10:g.20135917_20135929del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_017014592.1:c.-528-141538_-528-141526del
XP_016870081.1:n.-528-141538_-528-141526d...
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