ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825269835
Gene: CACNA1H
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375538
ClinVar RCV Id:
RCV000416956
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005407.1:p.His516Tyr
CA16044330
NM_001005407.2:c.1546C>T