ClinGen Allele Registry
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Canonical Allele Identifier:
PA3083289401
Gene: CACNA1H
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066921.2:p.Ala598Asp
CA394162419
NM_021098.3:c.1793C>A