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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:
PA2827463970
Gene: HPS4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
163673
ClinVar RCV Id:
RCV000150821
RCV000371919
RCV001519476
RCV001701619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336825.1:p.Leu443Val
CA176313
NM_001349896.1:c.1327C>G