ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573079376
Gene: ANK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000552516
ClinVar Variation:
457057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373103.1:p.Val2707Leu
CA3051692
NM_001386174.1:c.8119G>C
CA3051694
NM_001386174.1:c.8119G>T