ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA096195
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99310
ClinVar RCV Id:
RCV000085663
RCV000504910
RCV000622993
RCV000764207
RCV000626667
RCV001100155
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Ile156Val
CA227225
NM_000350.3:c.466A>G