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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:
PA2827023203
Gene: POLR1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204592
ClinVar RCV Id:
RCV000186589
RCV000853238
RCV003387792
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305805.1:p.Arg109His
CA204044
NM_001318876.2:c.326G>A