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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:
CA1841175444
Gene:
Linked Data
dbSNP Id:
rs1819673812
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.25551194_25551195dup , CM000671.2:g.25551194_25551195dup
GRCh38
NC_000009.11:g.25551192_25551193dup , CM000671.1:g.25551192_25551193dup
GRCh37
NC_000009.10:g.25541192_25541193dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_929525.1:n.50-622_50-621dup
XR_929525.2:n.674-622_674-621dup
Search 100 bp 5'
Search 100 bp 3'