ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573091427
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1300849
ClinVar RCV Id:
RCV001732699
RCV002222721
RCV002425035
RCV002477907
RCV003401665
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Arg3607Gln
CA1715063
NM_015120.4:c.10820G>A