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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:
PA2828719508
Gene: GAN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
860580
ClinVar RCV Id:
RCV001066910
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364415.1:p.His106Asn
CA8191543
NM_001377486.1:c.316C>A