ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096740
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289310
ClinVar RCV Id:
RCV000412846
RCV001074386
RCV001002835
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Thr1019Met
CA958052
NM_000350.3:c.3056C>T