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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:
PA2828526336
Gene: HSD17B4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1202909
ClinVar RCV Id:
RCV001568760
RCV001832779
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361431.1:p.Met68Thr
CA3381892
NM_001374502.1:c.203T>C