ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580104182
Gene: CACNA1S
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Pro742Ser
CA344111792
NM_000069.3:c.2224C>T