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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:
CA1458520093
Gene: RPL22P13
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.54221326_54221327delinsTA , CM000666.2:g.54221326_54221327delinsTA
GRCh38
NC_000004.11:g.55087493_55087494delinsTA , CM000666.1:g.55087493_55087494delinsTA
GRCh37
NC_000004.10:g.54782250_54782251delinsTA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000493291.1:n.201_202delinsTA
ENST00000507166.5:c.1018-53599_1018-53598delinsTA
ENSP00000423325.1:n.1018-53599_1018-53598...
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