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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:
PA2827057928
Gene: ACTA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199667
ClinVar RCV Id:
RCV000181016
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307784.1:p.Ala60Thr
CA006851
NM_001320855.1:c.178G>A