ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825271812
Gene: CACNA1H
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
389165
ClinVar RCV:
RCV000454291
ClinVar Variation:
402205
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005407.1:p.Ile2294Val
CA7802541
NM_001005407.2:c.6880A>G