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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:
PA199017
Gene: TNNI3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191799
ClinVar RCV Id:
RCV000172135
ClinVar Variation Id:
2455516
ClinVar RCV Id:
RCV003183409
RCV003586392
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000354.4:p.Thr78Ser
CA021381
NM_000363.5:c.232A>T
CA021389
NM_000363.5:c.233C>G