ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645439448
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236075
ClinVar RCV Id:
RCV000400700
RCV000283229
RCV000347578
RCV000377526
RCV000408482
RCV001100157
RCV001520655
RCV003888650
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Tyr106Phe
CA958865
NM_000350.3:c.317A>T