ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095866
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7886
ClinVar RCV Id:
RCV000008337
RCV000085548
RCV003398468
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Glu1036Lys
CA227082
NM_000350.3:c.3106G>A