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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:
PA243276
Gene: PEX13
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196352
ClinVar RCV Id:
RCV000177163
RCV000981678
RCV001250088
RCV004552990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002609.1:p.Met298Thr
CA243275
NM_002618.4:c.893T>C