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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:
CA1854701368
Gene:
Linked Data
dbSNP Id:
rs2037089554
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.70383426del , CM000671.2:g.70383426del
GRCh38
NC_000009.11:g.72998342del , CM000671.1:g.72998342del
GRCh37
NC_000009.10:g.72188162del
NCBI36
Search 100 bp 5'
Search 100 bp 3'