ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA220097
Gene: ABCA3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
88777
ClinVar RCV Id:
RCV000074419
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001080.2:p.Phe1441Ser
CA220096
NM_001089.3:c.4322T>C