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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:
PA2825725975
Gene: CACNA1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17635
ClinVar RCV Id:
RCV000019202
RCV000058283
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123313.1:p.Ala39Val
CA264810
NM_001129841.2:c.116C>T