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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:
CA191124896
Gene: SLC24A2
HGNC
NCBI
Linked Data
dbSNP Id:
rs969649687
gnomAD v3:
9-20145897-TTATAA-T
gnomAD v4:
9-20145897-TTATAA-T
MyVariant Identifiers:
chr9:g.20145896_20145900del (hg19)
chr9:g.20145898_20145902del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.20145904_20145908del , CM000671.2:g.20145904_20145908del
GRCh38
NC_000009.11:g.20145902_20145906del , CM000671.1:g.20145902_20145906del
GRCh37
NC_000009.10:g.20135902_20135906del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_017014592.1:c.-528-141515_-528-141511del
XP_016870081.1:n.-528-141515_-528-141511d...
Search 100 bp 5'
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