ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139682450
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
849603
ClinVar RCV Id:
RCV001053608
RCV002553324
RCV003890197
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Arg920His
CA958161
NM_000350.3:c.2759G>A