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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:
PA2825485060
Gene: DDC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17809
ClinVar RCV Id:
RCV000019387
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001076440.2:p.Gly102Ser
CA127442
NM_001082971.2:c.304G>A