ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096774
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99303
ClinVar RCV Id:
RCV000085656
RCV000177509
RCV000210286
RCV000623715
RCV001002827
RCV001075849
RCV001542561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Thr1526Met
CA227218
NM_000350.3:c.4577C>T