ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825269321
Gene: CACNA1H
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000991768
RCV001317206
RCV002489465
ClinVar Variation:
804677
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005407.1:p.Ser29Phe
CA394145471
NM_001005407.2:c.86C>T