ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA096642
Gene: ABCA4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
105231
ClinVar RCV:
RCV000085695
RCV000408570
ClinVar Variation:
99342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Ser1689Pro
CA227270
NM_000350.3:c.5065T>C