ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA217429
Gene: KRT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66631
ClinVar RCV Id:
RCV000057068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006112.3:p.Leu486Arg
CA217428
NM_006121.4:c.1457T>G