ClinGen Allele Registry
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Canonical Allele Identifier:
PA658803894
Gene: CACNA1S
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000651269
RCV002493045
RCV003451580
RCV003451581
RCV003451582
RCV003458497
RCV003953183
RCV004025825
ClinVar Variation:
541073
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Thr1573Met
CA083555
NM_000069.3:c.4718C>T