ClinGen Allele Registry
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Canonical Allele Identifier:
PA645440420
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
298250
ClinVar RCV Id:
RCV000261992
RCV000297212
RCV000331144
RCV000356767
RCV000894101
RCV001073731
RCV001096426
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Gly1183Cys
CA957897
NM_000350.3:c.3547G>T