ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645439798
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
298265
ClinVar RCV Id:
RCV000286376
RCV000402094
RCV000334279
RCV002522135
RCV003888708
RCV001241582
RCV000393402
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Arg264His
CA958722
NM_000350.3:c.791G>A