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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:
PA2825707917
Gene: CACNA1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190642
ClinVar RCV Id:
RCV000170780
RCV000232889
RCV002287377
RCV002250585
RCV002399602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123303.1:p.Arg518Cys
CA301308
NM_001129831.2:c.1552C>T