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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:
PA2573203262
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1423345
ClinVar RCV Id:
RCV002479442
RCV001954774
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338431.1:p.His45Arg
CA374332188
NM_001351502.2:c.134A>G