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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:
PA353935
Gene: CACNA1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
222515
ClinVar RCV Id:
RCV000208178
RCV000782178
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000710.5:p.Pro857Leu
CA353931
NM_000719.7:c.2570C>T