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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:
PA101611
Gene: F13B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16519
ClinVar RCV Id:
RCV000017983
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001985.2:p.Cys450Phe
CA126610
NM_001994.3:c.1349G>T