ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573167099
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1479699
ClinVar RCV Id:
RCV001976899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Pro1603Ser
CA26845035
NM_000350.3:c.4807C>T