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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:
PA2825731936
Gene: CACNA1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372313
ClinVar RCV Id:
RCV000412828
RCV000584800
RCV000631664
RCV001808785
RCV002230228
RCV002288982
RCV002402099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123316.1:p.Arg515His
CA16042880
NM_001129844.2:c.1544G>A