ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645440337
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
298252
ClinVar RCV Id:
RCV000283211
RCV000342791
RCV000346419
RCV000377692
RCV001098163
RCV003718155
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Lys1069Arg
CA958009
NM_000350.3:c.3206A>G