ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825597501
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448996
ClinVar RCV Id:
RCV000523450
RCV001252961
RCV001787103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Arg1358Trp
CA404339944
NM_001127222.2:c.4072C>T