ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825269914
Gene: CACNA1H
HGNC
NCBI
Linked Data
ClinVar Variation Id:
529630
ClinVar RCV Id:
RCV001475494
RCV002499055
RCV003258896
RCV003441982
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005407.1:p.Pro585Leu
CA7799997
NM_001005407.2:c.1754C>T