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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:
PA2573067329
Gene: FPGT-TNNI3K
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161447
ClinVar RCV Id:
RCV000148950
RCV001850021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186256.3:p.Gly627Asp
CA174028
NM_001199327.2:c.1880G>A