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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:
PA916009371
Gene: PRKN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7036
ClinVar RCV Id:
RCV000007452
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054643.2:p.Thr91Arg
CA254077
NM_013988.3:c.272C>G