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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:
PA2825837978
Gene: GGCX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16194
ClinVar RCV Id:
RCV000017578
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135741.1:p.Leu337Arg
CA126262
NM_001142269.2:c.1010T>G