ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658801069
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497057
ClinVar RCV Id:
RCV000597651
RCV001195780
RCV001101855
RCV002267738
RCV002289889
RCV002497243
RCV003235303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Gly1203Glu
CA957869
NM_000350.3:c.3608G>A