ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658668995
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000525516
RCV000710950
RCV002456255
ClinVar Variation:
476255
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Val1183Ile
CA9240286
NM_001127221.2:c.3547G>A