ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573079328
Gene: ANK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
393868
443556
ClinVar RCV:
RCV000519386
RCV000690898
RCV000839301
RCV001081178
RCV001704661
RCV002393097
RCV002395248
RCV002489022
RCV003962447
ClinVar Variation:
406495
449744
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373103.1:p.Arg3501Ser
CA3052059
NM_001386174.1:c.10503G>T
CA3052060
NM_001386174.1:c.10503G>C