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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:
CA1037455406
Gene:
Linked Data
dbSNP Id:
rs36030469
gnomAD v3:
2-145367803-CAA-C
gnomAD v4:
2-145367803-CAA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.145367811_145367812del , CM000664.2:g.145367811_145367812del
GRCh38
NC_000002.11:g.146125379_146125380del , CM000664.1:g.146125379_146125380del
GRCh37
NC_000002.10:g.145841849_145841850del
NCBI36
Search 100 bp 5'
Search 100 bp 3'