ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580376504
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2154172
ClinVar RCV Id:
RCV003069145
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Arg2617Gln
CA347265954
NM_015120.4:c.7850G>A