ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107642
Gene: CACNA1H
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066921.2:p.Glu282Lys
CA214923
NM_021098.3:c.844G>A