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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:
PA916021843
Gene: DPM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
167008
ClinVar RCV Id:
RCV000153165
RCV001808420
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303963.1:p.Asn204Ser
CA233916
NM_001317034.1:c.611A>G