ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829934044
Gene: ANK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2770622
ClinVar RCV Id:
RCV003580763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065209.2:p.Tyr1712Phe
CA371052069
NM_020476.3:c.5135A>T