ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645440634
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
298237
ClinVar RCV Id:
RCV000263027
RCV000315841
RCV000321629
RCV000374011
RCV001096335
RCV002520511
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Pro1511Leu
CA10611712
NM_000350.3:c.4532C>T