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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:
PA2827713433
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471382
ClinVar RCV Id:
RCV000527153
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340123.1:p.His76Pro
CA5293245
NM_001353194.2:c.227A>C