ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580376493
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1760652
ClinVar RCV Id:
RCV002409871
RCV003099749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Asp2599Tyr
CA1714352
NM_015120.4:c.7795G>T