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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:
CA1458520082
Gene: RPL22P13
HGNC
NCBI
Linked Data
dbSNP Id:
rs1720288829
gnomAD v4:
4-54221314-G-GA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.54221317dup , CM000666.2:g.54221317dup
GRCh38
NC_000004.11:g.55087484dup , CM000666.1:g.55087484dup
GRCh37
NC_000004.10:g.54782241dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000493291.1:n.192dup
ENST00000507166.5:c.1018-53608dup
ENSP00000423325.1:n.1018-53608dup
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