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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:
PA2499268898
Gene: HERC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1194923
ClinVar RCV Id:
RCV001557833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004658.3:p.Leu3982Phe
CA391381209
NM_004667.6:c.11944C>T