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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:
CA920130102
Gene:
Linked Data
dbSNP Id:
rs1555769881
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.50854709del , CM000681.2:g.50854709del
GRCh38
NC_000019.9:g.51357965del , CM000681.1:g.51357965del
GRCh37
NC_000019.8:g.56049777del
NCBI36
NG_011653.1:g.4795del
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