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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:
CA530372043
Gene:
Linked Data
dbSNP Id:
rs1412984551
gnomAD v2:
2-611671-GAC-G
gnomAD v3:
2-611671-GAC-G
gnomAD v4:
2-611671-GAC-G
MyVariant Identifiers:
chr2:g.611672_611673del (hg19)
chr2:g.611672_611673del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.611679_611680del , CM000664.2:g.611679_611680del
GRCh38
NC_000002.11:g.611679_611680del , CM000664.1:g.611679_611680del
GRCh37
NC_000002.10:g.601679_601680del
NCBI36
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