ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA347416
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212727
ClinVar RCV Id:
RCV000194199
RCV000408459
RCV001071977
RCV001075570
RCV002485297
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Phe655Cys
CA347415
NM_000350.3:c.1964T>G