ClinGen Allele Registry
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Canonical Allele Identifier:
PA916070293
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000518921
RCV000624265
RCV001644622
RCV002227176
RCV003985374
ClinVar Variation:
449943
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Asp1637Asn
CA404337971
NM_023035.3:c.4909G>A