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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:
CA608903671
Gene:
Linked Data
dbSNP Id:
rs1240780510
gnomAD v2:
13-24042464-CAATCTGTTTCTTCTA-C
gnomAD v3:
13-23468325-CAATCTGTTTCTTCTA-C
gnomAD v4:
13-23468325-CAATCTGTTTCTTCTA-C
MyVariant Identifiers:
chr13:g.24042465_24042479del (hg19)
chr13:g.23468326_23468340del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.23468328_23468342del , CM000675.2:g.23468328_23468342del
GRCh38
NC_000013.10:g.24042467_24042481del , CM000675.1:g.24042467_24042481del
GRCh37
NC_000013.9:g.22940467_22940481del
NCBI36
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