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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:
PA102998
Gene: F11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68186
ClinVar RCV Id:
RCV000059018
RCV000169135
RCV003230390
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000119.1:p.Glu565Lys
CA199064
NM_000128.4:c.1693G>A