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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:
CA2596113421
Gene:
Linked Data
dbSNP Id:
rs2141985468
gnomAD v3:
16-56957422-GAA-G
gnomAD v4:
16-56957422-GAA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.56957423_56957424del , CM000678.2:g.56957423_56957424del
GRCh38
NC_000016.9:g.56991335_56991336del , CM000678.1:g.56991335_56991336del
GRCh37
NC_000016.8:g.55548836_55548837del
NCBI36
NG_008952.1:g.501_502del
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