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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:
PA2573212677
Gene: GUCA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1450736
ClinVar RCV Id:
RCV002004925
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371839.1:p.Pro50Arg
CA3805273
NM_001384910.1:c.149C>G