ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825269384
Gene: CACNA1H
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003007811
ClinVar Variation:
2087093
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005407.1:p.Gly84Cys
CA394145941
NM_001005407.2:c.250G>T