ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916056950
Gene: CACNA1H
HGNC
NCBI
Linked Data
ClinVar Variation Id:
804677
ClinVar RCV Id:
RCV000991768
RCV001317206
RCV002489465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066921.2:p.Ser29Phe
CA394145471
NM_021098.3:c.86C>T