ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573279055
Gene: CACNA1H
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1347724
ClinVar RCV Id:
RCV002050664
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066921.2:p.Pro567Leu
CA394161982
NM_021098.3:c.1700C>T