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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:
PA2827715582
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
488581
ClinVar RCV Id:
RCV000578259
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340126.2:p.Leu609Phe
CA5293879
NM_001353197.2:c.1825C>T