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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:
PA184864
Gene: EMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
179659
ClinVar RCV Id:
RCV000156455
RCV001049941
RCV001826851
RCV002408699
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000108.1:p.Val26Ala
CA184862
NM_000117.3:c.77T>C