ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA216630
Gene: KRT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66190
ClinVar RCV Id:
RCV000056530
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000414.2:p.Leu483Gln
CA216629
NM_000423.3:c.1448T>A