ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828766242
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3020471
ClinVar RCV Id:
RCV003877646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Cys3497Tyr
CA347283180
NM_001378454.1:c.10490G>A