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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:
PA2826044128
Gene: CACNA1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190702
ClinVar RCV Id:
RCV000170841
RCV004020034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161095.1:p.Arg860Gly
CA301743
NM_001167623.2:c.2578C>G