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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:
PA2826404431
Gene: CACNA1F
HGNC
NCBI
Linked Data
ClinVar Variation Id:
964360
ClinVar RCV Id:
RCV001238566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243718.1:p.Ala1079Val
CA10410513
NM_001256789.3:c.3236C>T