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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:
PA1139697821
Gene: RPS19
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420637
ClinVar RCV Id:
RCV000478263
RCV002455923
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308413.1:p.Val113del
CA16620855
NM_001321484.1:c.338_340del