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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:
CA1881450307
Gene:
Linked Data
dbSNP Id:
rs1831666654
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.130890296del , CM000671.2:g.130890296del
GRCh38
NC_000009.11:g.133765683del , CM000671.1:g.133765683del
GRCh37
NC_000009.10:g.132755504del
NCBI36
Search 100 bp 5'
Search 100 bp 3'