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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:
PA916026941
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284192
ClinVar RCV Id:
RCV000314283
RCV000675526
RCV001087801
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310473.1:p.Val486Phe
CA8234665
NM_001323544.2:c.1456G>T