ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA300824
Gene: ANK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001139.3:p.Ser646Phe
NM_001148.6:c.1937C>T