ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645439999
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265014
ClinVar RCV Id:
RCV000255758
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Pro870Ser
CA10588301
NM_000350.3:c.2608C>T