ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA227026
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99155
ClinVar RCV Id:
RCV000085502
RCV000787777
RCV001101956
RCV002470763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Thr901Ala
CA227025
NM_000350.3:c.2701A>G