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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:
PA2828067435
Gene: ZFPM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
544219
ClinVar RCV Id:
RCV000655307
RCV001354602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349766.1:p.Ser492Cys
CA4839821
NM_001362837.1:c.1475C>G