ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825269369
Gene: CACNA1H
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452516
ClinVar RCV Id:
RCV000523683
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005407.1:p.Ala76Thr
CA394145886
NM_001005407.2:c.226G>A