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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:
PA2828538471
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471377
ClinVar RCV Id:
RCV000551846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361624.1:p.Gly364Ser
CA5293707
NM_001374695.1:c.1090G>A