ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA227136
Gene: ABCA4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
105128
ClinVar RCV:
RCV000085592
RCV000408481
RCV001075720
RCV001101851
RCV003317087
ClinVar Variation:
99239
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Thr1253Met
CA227135
NM_000350.3:c.3758C>T