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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:
PA2827716708
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365282
ClinVar RCV Id:
RCV000374315
RCV000821958
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340128.2:p.Gly528Ser
CA5293874
NM_001353199.2:c.1582G>A