ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA250935
Gene: APC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000074243
RCV003650365
ClinVar Variation:
83247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120982.1:p.Ser2350Phe
CA012787
NM_001127510.3:c.7049C>T