ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825269928
Gene: CACNA1H
HGNC
NCBI
Linked Data
ClinVar Variation Id:
639553
ClinVar RCV Id:
RCV000792373
RCV002487643
RCV004027418
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005407.1:p.Ala595Thr
CA7800007
NM_001005407.2:c.1783G>A