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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:
PA269842
Gene: TNNT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
132943
ClinVar RCV Id:
RCV000119344
RCV000612990
RCV000777699
RCV000646060
RCV001781461
RCV002055314
RCV002055315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001001430.1:p.Arg144Trp
CA004554
NM_001001430.3:c.430C>T