Canonical Allele Identifier: PA2825633037
Gene: CACNA1A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001120693.1:p.Asp173Glu
CA404967442
NM_001127221.2:c.519C>G
CA404967443
NM_001127221.2:c.519C>A