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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:
PA2828804344
Gene: CERT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
419654
ClinVar RCV Id:
RCV000480594
RCV001253088
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365933.1:p.Ser132Leu
CA16618211
NM_001379004.1:c.395C>T