ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828763614
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
403935
ClinVar RCV Id:
RCV000462849
RCV000523577
RCV001195325
RCV002348257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Gly1230Glu
CA1713573
NM_001378454.1:c.3689G>A