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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:
PA1139749622
Gene: GAN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
954301
ClinVar RCV Id:
RCV001226739
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071324.1:p.Leu113Arg
CA396867508
NM_022041.4:c.338T>G