ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573160626
Gene: CACNA1S
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1486135
ClinVar RCV Id:
RCV002001260
RCV002479671
RCV004011066
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Thr236Met
CA083969
NM_000069.3:c.707C>T