ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105026
Gene: F8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000123.1:p.Arg2323Leu
NM_000132.4:c.6968G>T